Malformations reported in chorionic villus sampling exposed children: A review and analytic synthesis of the literature

Stoler, Joan M.; McGuirk, Caroline K.; Lieberman, Ellice; Ryan, Louise; Holmes, Lewis B.

doi:10.1097/00125817-199911000-00001

Cited by 31 publications

(12 citation statements)

References 40 publications

(1 reference statement)

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“…Clinical observations offer further support on a case-by-case basis. Cases of monozygous twinning, tubal pregnancies, bicornate uterus, misoprostol, or chorionic villous sampling associated with the amniotic band phenotype (McGuirk and others, 2001; Stoler and others, 1999; Van Allen, 1981) offer compelling evidence for a vascular disruption etiology, but these published cases appear to represent a very small fraction of most amniotic band or limb reduction cases.…”

Section: Discussionmentioning

confidence: 99%

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects

Werler

Bosco

Shapira

2008

Birth Defects Research

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BACKGROUND-Limb reduction deficiencies that are accompanied by amniotic bands (AB-L) and terminal transverse limb deficiencies (TLD) have each been attributed to vascular disruption; for the former, however, it is not clear if amniotic bands are the primary cause of or are secondary to vascular disruption. If amniotic bands are secondary to vascular disruption, then a shared pathogenesis for each case group might be exhibited by similar risk factors.

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Section: Discussionmentioning

confidence: 99%

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects

Werler

Bosco

Shapira

2008

Birth Defects Research

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“…Additional analyses of the frequency of common malformations in children exposed to CVS 15 have shown an increased frequency of several other abnormalities, such as clubfoot and bowel atresia. Los et al 16 noted that these features have in common the presence of end arteries, which is the basis of abnormalities caused by poor perfusion of the brain stem, tongue, spinal cord, intestine, fingers, and toes.…”

Section: Other Associated Deformitiesmentioning

confidence: 99%

Chorionic Villus Sampling and Hemangiomas

Holmes¹

2009

Journal of Craniofacial Surgery

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Chorionic villus sampling (CVS) is a widely used and safe method of prenatal diagnosis. In the 1990s, concerns were raised at several medical centers that there was an increased risk to the exposed fetus for the occurrence of limb deficiencies, hemangiomas, and other vascular disruption defects. The risk was greater when the procedure was performed earlier in pregnancy, such as 8 or 9 weeks of gestation. The postulated mechanisms for the fetal injury included blood loss, hypoperfusion, hypoxia, endothelial cell damage, hemorrhage, and tissue loss. The effect was most common in tissues with end arteries, such as digits, tongue, brain stem, and intestine. The associated hemangiomas were infantile hemangiomas. They were more common on the head, neck, and thorax and more often multiple in infants exposed to CVS. One postulated mechanism for the occurrence of these hemangiomas is embolization of angioblasts or endothelial cells from the placenta to the fetal skin. A question to be answered is whether the infantile hemangiomas in children exposed to CVS differ in immunohistologic characteristics from similar hemangiomas in children not exposed to CVS during pregnancy.

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“…However, structural abnormalities of the central nervous system were not observed in those cases who had CNS imaging. Among these cases, where primarily the legs were involved, the ATP was most likely to occur between 8 and 9 embryonic weeks (10-11 gestational weeks) consistent with the concern that early amniocentesis is associated with an increased risk for arthrogryposis and clubfoot [Stoler et al, 1999].…”

Section: Discussionmentioning

confidence: 62%

“…Early amniocentesis and early CVS studies showed an increase in limb anomalies together with contractures, including clubfeet and arthrogryposis and these reported changes were compatible with vascular compromise [Singh et al, 1974;Cheng et al, 1991;Brambati et al, 1992;Froster and Baird, 1992;Halliday et al, 1992;Hanson et al, 1992;Greenough and Nicolaides, 1997;Stranc et al, 1997;Sundberg et al, 1997;Babay et al, 1998;Boyd et al, 1998;Stoler et al, 1999]. Maternal cocaine use during pregnancy, which also alters vascular supply, has been associated with congenital contractures suggesting that vascular compromise may play a role in this type of limb anomaly [Acker et al, 1983;Chavez et al, 1989;Lipson et al, 1989;Handler et al, 1991].…”

Section: Discussionmentioning

confidence: 99%

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

Hall

2012

American J of Med Genetics Pt A

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The purpose of this study was to establish whether an increase in failed termination of pregnancy is observed among individuals with arthrogryposis (multiple congenital contractures). A total of 2,500 unselected patients with arthrogryposis collected by the author over a 35-year period were reviewed. The cases included referrals, consultations, personal examinations, and correspondence. They were reviewed for clinical features, pregnancy complications, family history, and a history of attempted terminations of the pregnancy. Eleven cases of failed terminations of pregnancy in which the individuals were subsequently born with arthrogryposis were identified. We conclude that infants who survive attempted termination of pregnancy (both surgical and medical) may be at an increased risk to be born with multiple congenital contractures. Careful examination of the tissue and a post-procedure ultrasound will help to assure that the termination has been successful. Those infants surviving attempted termination of pregnancy who have arthrogryposis are also at >50% risk for intellectual disability.

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Malformations reported in chorionic villus sampling exposed children: A review and analytic synthesis of the literature

Cited by 31 publications

References 40 publications

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects

Chorionic Villus Sampling and Hemangiomas

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

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