Journal of Obstetrics and Gynaecology
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Concordant spina bifida in a twin pregnancy D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir To cite this article: D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir (2014) Concordant spina bifida in a twin pregnancy, Journal of Obstetrics and Gynaecology, 34:3, 275-276 To link to this article: http://dx.doi.org/10.3109/01443615.2013.853728
Published online: 31 Jan 2014.
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Date: 03 October 2015, At: 06:47
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Obstetric Case Reports 275 Bartter syndrome is a rare autosomal recessive condition with a reported prevalence of 1 in 1,000,000 (Ji et al. 2008). It is characterised by renal tubulopathy with defective transepithelial chloride reabsorption in the ascending loop of Henle (Bhat et al. 2012). It may be more prevalent in some populations, and a series of 20 cases has been reported from Costa Rica (Madrigal et al. 1997). There are very few reported cases in the UK. The parents in this case are unrelated. The condition was first described by Bartter et al. (1962) in children with renal salt wasting and hypokalemic metabolic acidosis alongside normal or low blood pressure, despite secondary hyperaldosteronism. The antenatal variant presents with: polyhydramnios; prematurity; postnatal polyuria and hyposthenuria; hypercalciuria with subsequent nephrocalcinosis; recurrent vomiting; faltering growth; increased renal synthesis and urinary excretion of prostaglandin. The milder classical phenotype is characterised by early childhood onset (Bhat et al. 2012). The severity of hydramnios appears greater in this case than in other reports of the antenatal variant, however close monitoring with serial amniocentesis allowed the pregnancy to continue to beyond 33 weeks, with a satisfactory outcome. Sulindac did not appear to reduce the rate of amniotic re-accumulation, and consideration might be given to maternal indomethacin with close monitoring of the fetal circulation. However, neonatal bowel perforation has been linked to maternal indomethacin and has been reported in a case of ABS (Dane et al. 2010).
Acknowledgement Thanks to Nicola Lerpiniere, Genetic Counsellor at Gloucestershire Royal Hospital, for clarifying the parental mutations in this case.
Introduction Neural tube defects (NTDs) are quite common congenital malformations affecting 1/1,000 pregnancies (Windham and Sever 1982). However, NTDs affecting both fetuses in a twin pregnancy is very rare and its incidence is 1/32,000 (Hay and Wehrung 1970). In this paper, we report on a twin pregnancy in both fetuses affected with spina bifida.
Case report A 25-year-old, gravida 3, para 2 woman at 19 weeks’ pregnancy attended our delivery ward without any complaint. There were no previous antenatal check-ups in the current pregnancy. Her obstetric history revealed that she had previously had two singleton pregnancies, resulting in two healthy children without any congenital problems. Ultrasonographic (USG) examination revealed that she had a monochorionic diamniotic twin pregnancy. Both fetuses had normal fetal biometric measurements consistent with her gestational stage. Spina bifida at the lumbosacral region was diagnosed in both fetuses (Figure 1). Prenatal counselling was given to the parents and they decided to terminate the pregnancy. The pregnancy termination was successfully performed. Placental examination confirmed that the pregnancy was monochorionic diamniotic. Both fetuses were male. Her obstetric history revealed that she had not taken any folic acid supplementation during the first trimester in her current and previous pregnancies. In her previous pregnancies, she had no first or second trimester antenatal screening tests done, as was the case during the current pregnancy.
Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Bartter FC, Pronove P, Gill JR et al. 1962. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. American Journal of Medicine 33:811–828. Bhat Y, Vinayaka G, Sreelakshmi K. 2012. Antenatal Bartter syndrome: a review. International Journal of Pediatrics 2012:857136. Bhat Y, Vinayaka G, Vani R et al. 2011. Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. Annals of Tropical Paediatrics 31: 153–157. Dane B, Dane C, Aksoy F et al. 2010. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal and Pediatric Pathology 29: 121–126. Dane B, Yayla M, Dane C et al. 2007. Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. Fetal Diagnosis and Therapy 22:206–208. Ji W, Foo JN, O’Roak BJ et al. 2008. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 40: 592–599. Madrigal G, Saborio P, Mora F et al. 1997. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatric Nephrology 11:296–301.
Concordant spina bifida in a twin pregnancy D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir Department of Obstetrics and Gynecology, Division of Maternal and Fetal Medicine, Etlik Zubeyde Hanim Maternity Hospital, Ankara, Turkey DOI: 10.3109/01443615.2013.853728 Correspondence: D. Esinler, Department of Obstetrics and Gynecology, Division of Maternal and Fetal Medicine, Etlik Zubeyde Hanim Maternity Hospital, Ankara, Turkey. E-mail: [email protected]
Figure 1. Spina bifida was diagnosed in both fetuses via ultrasonography. Arrows point to the spina bifida.
276
Obstetric Case Reports
Downloaded by [University of Lethbridge] at 06:47 03 October 2015
Discussion Neural tube defects (NTDs) are quite common congenital malformations and the incidence ranges 1.5–4/1,000 pregnancies in Turkey (Posaci et al. 1992). It is known that twinning is associated with increased risk of NTDs, but the majority of twinning is discordant for NTDs. The incidence of discordant NTDs in a twin pregnancy is 1.6/1,000 (Windham and Sever 1982). However, concordant NTDs in a twin pregnancy are very rare. In a large study, its incidence was reported as 1/32,000 (Hay and Wehrung 1970). The present case had monochorionic diamniotic twinning with two male fetuses both affected with NTDs. There was a strong familial association of twinning with either monochorionic or dichorionic with the same sex and NTDs (Budhiraja et al. 2002; Garabedian and Fraser 1994). It has been hypothesised that delayed ovulation or delayed fertilisation results in an over-ripe ova, believed to lack cohesion, caused splitting of the zygote (Harlap et al. 1985). Of interest in this case is the fact that there was no history of NTDs and no relatives with NTDs, in addition to the woman having two children without any congenital malformations. It is known that several factors may be associated with NTDs, such as: genetic factors; environmental factors; maternal age; low socioeconomic status; folic acid deficiency; alcohol abuse; hyperthermia in early pregnancy; hyperglycaemia and medication (Chen 2008). Her obstetric history revealed that she had no risk factors for NTDs, except that she did not take folic acid supplementation during early pregnancy. Unfortunately, we could not learn whether or not the patient has the methylenetetrahydrofolate reductase (MTHFR) gene mutation because she did not consent to the analysis being performed. This is the main drawback of our manuscript. However, her family history revealed that she had no relatives with pregnancies complicated with NTDs. Folic acid supplementation is very important to prevent NTDs. In twin pregnancies, the need for folic acid increases. Lack of folic acid supplementation in presented cases may promote the development of NTD. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Budhiraja S, Dahiya P, Ghei M et al. 2002. Neural-tube defect in dizygotic twins. Pediatric Surgery International 18:211–212. Chen CP. 2008. Syndromes, disorders and maternal risk factors associated with neural tube defects (I). Taiwanese Journal of Obstetrics and Gynecology 47:1–9. Garabedian BH, Fraser FC. 1994. A familial association between twinning and upper-neural tube defects. American Journal of Human Genetics 55: 1050–1053. Harlap S, Shahar S, Baras M. 1985. Overripe ova and twinning. American Journal of Human Genetics 37:1206–1215.
Hay S, Wehrung DA. 1970. Congenital malformations in twins. American Journal of Human Genetics 22:662–678. Posaci C, Celiloglu M, Karabacak O. 1992. The epidemiology of neural tube defects in Izmir, Turkey. International Journal of Gynaecology and Obstetrics 39:135–136. Windham GC, Sever LE. 1982. Neural tube defects among twin births. American Journal of Human Genetics 34:988–998.
Heterotopic interstitial pregnancy successfully treated with ultrasoundguided potassium chloride injection in the ectopic embryo L. Savelli, F. Fabbri, N. Di Donato & L. De Meis Gynecology and Early Pregnancy Ultrasound Unit, S. Orsola - Malpighi Hospital, University of Bologna, Italy DOI: 10.3109/01443615.2013.861394 Correspondence: N. Di Donato, Gynecology and Early Pregnancy Ultrasound Unit, S. Orsola - Malpighi Hospital, University of Bologna. Via Massarenti 13, 40138, Bologna, Italy. E-mail: [email protected]
Case report
A 27-year-old woman, gravida 1 (6 weeks ⫹ 5 days), para 0, presented to our gynecologic and early pregnancy ultrasound unit for the suspicion of a heterotopic interstitial pregnancy. The woman underwent in-vitro fertilisation of donor oocytes and transferred two embryos into the uterine cavity. At transvaginal sonography (TVS), two different gestational sacs were found, both containing an embryo of 7 mm in crown-rump length showing heart activity: the first was centrally located in the uterine cavity and measured 28 mm in mean diameter, the second was found in the interstitial portion of the right fallopian tube and measured 33 ⫻ 31 ⫻ 30 mm. The interstitial pregnancy was surrounded by a continuous rim of myometrium, separated by at least 1 cm from the most lateral portion of the decidualised endometrium (Figure 1). The patient was asymptomatic and the level of serum beta-human chorionic gonadotropin (β-hCG) was 80,849 mIU/ml. After 48 h, the β-hCG increased to 129,585 mIU/ml. The woman consented to a transvaginal ultrasound-guided injection of KCl in the interstitial pregnancy. After cleansing the vagina and cervix with povidone-iodine, a 16-gauge needle was used to puncture the ectopic sac. Coelomatic fluid was aspirated in order to immobilise the embryo and to puncture it with the needle. Then 1 ml of 10% KCl was injected into it. The embryo heart beat stopped immediately. The whole procedure lasted 15 min, required no analgesia or anaesthesia and had no immediate or late complications.
Figure 1. Transvaginal 3-dimensional reconstruction of the uterus with the thick-slice technique. A coronal section through the uterine cavity shows the presence of a normal intrauterine gestational sac surrounded by a regular rim of trophoblastic tissue and a second gestational sac located eccentrically in the interstitial portion of the right tube. Both sacs contain an embryo.
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Concordant spina bifida in a twin pregnancy D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir To cite this article: D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir (2014) Concordant spina bifida in a twin pregnancy, Journal of Obstetrics and Gynaecology, 34:3, 275-276 To link to this article: http://dx.doi.org/10.3109/01443615.2013.853728
Published online: 31 Jan 2014.
Submit your article to this journal
Article views: 41
View related articles
View Crossmark data
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ijog20 Download by: [University of Lethbridge]
Date: 03 October 2015, At: 06:47
Downloaded by [University of Lethbridge] at 06:47 03 October 2015
Obstetric Case Reports 275 Bartter syndrome is a rare autosomal recessive condition with a reported prevalence of 1 in 1,000,000 (Ji et al. 2008). It is characterised by renal tubulopathy with defective transepithelial chloride reabsorption in the ascending loop of Henle (Bhat et al. 2012). It may be more prevalent in some populations, and a series of 20 cases has been reported from Costa Rica (Madrigal et al. 1997). There are very few reported cases in the UK. The parents in this case are unrelated. The condition was first described by Bartter et al. (1962) in children with renal salt wasting and hypokalemic metabolic acidosis alongside normal or low blood pressure, despite secondary hyperaldosteronism. The antenatal variant presents with: polyhydramnios; prematurity; postnatal polyuria and hyposthenuria; hypercalciuria with subsequent nephrocalcinosis; recurrent vomiting; faltering growth; increased renal synthesis and urinary excretion of prostaglandin. The milder classical phenotype is characterised by early childhood onset (Bhat et al. 2012). The severity of hydramnios appears greater in this case than in other reports of the antenatal variant, however close monitoring with serial amniocentesis allowed the pregnancy to continue to beyond 33 weeks, with a satisfactory outcome. Sulindac did not appear to reduce the rate of amniotic re-accumulation, and consideration might be given to maternal indomethacin with close monitoring of the fetal circulation. However, neonatal bowel perforation has been linked to maternal indomethacin and has been reported in a case of ABS (Dane et al. 2010).
Acknowledgement Thanks to Nicola Lerpiniere, Genetic Counsellor at Gloucestershire Royal Hospital, for clarifying the parental mutations in this case.
Introduction Neural tube defects (NTDs) are quite common congenital malformations affecting 1/1,000 pregnancies (Windham and Sever 1982). However, NTDs affecting both fetuses in a twin pregnancy is very rare and its incidence is 1/32,000 (Hay and Wehrung 1970). In this paper, we report on a twin pregnancy in both fetuses affected with spina bifida.
Case report A 25-year-old, gravida 3, para 2 woman at 19 weeks’ pregnancy attended our delivery ward without any complaint. There were no previous antenatal check-ups in the current pregnancy. Her obstetric history revealed that she had previously had two singleton pregnancies, resulting in two healthy children without any congenital problems. Ultrasonographic (USG) examination revealed that she had a monochorionic diamniotic twin pregnancy. Both fetuses had normal fetal biometric measurements consistent with her gestational stage. Spina bifida at the lumbosacral region was diagnosed in both fetuses (Figure 1). Prenatal counselling was given to the parents and they decided to terminate the pregnancy. The pregnancy termination was successfully performed. Placental examination confirmed that the pregnancy was monochorionic diamniotic. Both fetuses were male. Her obstetric history revealed that she had not taken any folic acid supplementation during the first trimester in her current and previous pregnancies. In her previous pregnancies, she had no first or second trimester antenatal screening tests done, as was the case during the current pregnancy.
Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Bartter FC, Pronove P, Gill JR et al. 1962. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. American Journal of Medicine 33:811–828. Bhat Y, Vinayaka G, Sreelakshmi K. 2012. Antenatal Bartter syndrome: a review. International Journal of Pediatrics 2012:857136. Bhat Y, Vinayaka G, Vani R et al. 2011. Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. Annals of Tropical Paediatrics 31: 153–157. Dane B, Dane C, Aksoy F et al. 2010. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal and Pediatric Pathology 29: 121–126. Dane B, Yayla M, Dane C et al. 2007. Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. Fetal Diagnosis and Therapy 22:206–208. Ji W, Foo JN, O’Roak BJ et al. 2008. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 40: 592–599. Madrigal G, Saborio P, Mora F et al. 1997. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatric Nephrology 11:296–301.
Concordant spina bifida in a twin pregnancy D. Esinler, H. Dede, S. Yalvac, B. Yirci, S. Esin & O. Kandemir Department of Obstetrics and Gynecology, Division of Maternal and Fetal Medicine, Etlik Zubeyde Hanim Maternity Hospital, Ankara, Turkey DOI: 10.3109/01443615.2013.853728 Correspondence: D. Esinler, Department of Obstetrics and Gynecology, Division of Maternal and Fetal Medicine, Etlik Zubeyde Hanim Maternity Hospital, Ankara, Turkey. E-mail: [email protected]
Figure 1. Spina bifida was diagnosed in both fetuses via ultrasonography. Arrows point to the spina bifida.
276
Obstetric Case Reports
Downloaded by [University of Lethbridge] at 06:47 03 October 2015
Discussion Neural tube defects (NTDs) are quite common congenital malformations and the incidence ranges 1.5–4/1,000 pregnancies in Turkey (Posaci et al. 1992). It is known that twinning is associated with increased risk of NTDs, but the majority of twinning is discordant for NTDs. The incidence of discordant NTDs in a twin pregnancy is 1.6/1,000 (Windham and Sever 1982). However, concordant NTDs in a twin pregnancy are very rare. In a large study, its incidence was reported as 1/32,000 (Hay and Wehrung 1970). The present case had monochorionic diamniotic twinning with two male fetuses both affected with NTDs. There was a strong familial association of twinning with either monochorionic or dichorionic with the same sex and NTDs (Budhiraja et al. 2002; Garabedian and Fraser 1994). It has been hypothesised that delayed ovulation or delayed fertilisation results in an over-ripe ova, believed to lack cohesion, caused splitting of the zygote (Harlap et al. 1985). Of interest in this case is the fact that there was no history of NTDs and no relatives with NTDs, in addition to the woman having two children without any congenital malformations. It is known that several factors may be associated with NTDs, such as: genetic factors; environmental factors; maternal age; low socioeconomic status; folic acid deficiency; alcohol abuse; hyperthermia in early pregnancy; hyperglycaemia and medication (Chen 2008). Her obstetric history revealed that she had no risk factors for NTDs, except that she did not take folic acid supplementation during early pregnancy. Unfortunately, we could not learn whether or not the patient has the methylenetetrahydrofolate reductase (MTHFR) gene mutation because she did not consent to the analysis being performed. This is the main drawback of our manuscript. However, her family history revealed that she had no relatives with pregnancies complicated with NTDs. Folic acid supplementation is very important to prevent NTDs. In twin pregnancies, the need for folic acid increases. Lack of folic acid supplementation in presented cases may promote the development of NTD. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Budhiraja S, Dahiya P, Ghei M et al. 2002. Neural-tube defect in dizygotic twins. Pediatric Surgery International 18:211–212. Chen CP. 2008. Syndromes, disorders and maternal risk factors associated with neural tube defects (I). Taiwanese Journal of Obstetrics and Gynecology 47:1–9. Garabedian BH, Fraser FC. 1994. A familial association between twinning and upper-neural tube defects. American Journal of Human Genetics 55: 1050–1053. Harlap S, Shahar S, Baras M. 1985. Overripe ova and twinning. American Journal of Human Genetics 37:1206–1215.
Hay S, Wehrung DA. 1970. Congenital malformations in twins. American Journal of Human Genetics 22:662–678. Posaci C, Celiloglu M, Karabacak O. 1992. The epidemiology of neural tube defects in Izmir, Turkey. International Journal of Gynaecology and Obstetrics 39:135–136. Windham GC, Sever LE. 1982. Neural tube defects among twin births. American Journal of Human Genetics 34:988–998.
Heterotopic interstitial pregnancy successfully treated with ultrasoundguided potassium chloride injection in the ectopic embryo L. Savelli, F. Fabbri, N. Di Donato & L. De Meis Gynecology and Early Pregnancy Ultrasound Unit, S. Orsola - Malpighi Hospital, University of Bologna, Italy DOI: 10.3109/01443615.2013.861394 Correspondence: N. Di Donato, Gynecology and Early Pregnancy Ultrasound Unit, S. Orsola - Malpighi Hospital, University of Bologna. Via Massarenti 13, 40138, Bologna, Italy. E-mail: [email protected]
Case report
A 27-year-old woman, gravida 1 (6 weeks ⫹ 5 days), para 0, presented to our gynecologic and early pregnancy ultrasound unit for the suspicion of a heterotopic interstitial pregnancy. The woman underwent in-vitro fertilisation of donor oocytes and transferred two embryos into the uterine cavity. At transvaginal sonography (TVS), two different gestational sacs were found, both containing an embryo of 7 mm in crown-rump length showing heart activity: the first was centrally located in the uterine cavity and measured 28 mm in mean diameter, the second was found in the interstitial portion of the right fallopian tube and measured 33 ⫻ 31 ⫻ 30 mm. The interstitial pregnancy was surrounded by a continuous rim of myometrium, separated by at least 1 cm from the most lateral portion of the decidualised endometrium (Figure 1). The patient was asymptomatic and the level of serum beta-human chorionic gonadotropin (β-hCG) was 80,849 mIU/ml. After 48 h, the β-hCG increased to 129,585 mIU/ml. The woman consented to a transvaginal ultrasound-guided injection of KCl in the interstitial pregnancy. After cleansing the vagina and cervix with povidone-iodine, a 16-gauge needle was used to puncture the ectopic sac. Coelomatic fluid was aspirated in order to immobilise the embryo and to puncture it with the needle. Then 1 ml of 10% KCl was injected into it. The embryo heart beat stopped immediately. The whole procedure lasted 15 min, required no analgesia or anaesthesia and had no immediate or late complications.
Figure 1. Transvaginal 3-dimensional reconstruction of the uterus with the thick-slice technique. A coronal section through the uterine cavity shows the presence of a normal intrauterine gestational sac surrounded by a regular rim of trophoblastic tissue and a second gestational sac located eccentrically in the interstitial portion of the right tube. Both sacs contain an embryo.
