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Teratogenicity and Registry Programs
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Reese L. Imhof, Megha M. Tollefson
Evidence regarding the management of women who conceive during or after exposure to systemic retinoids is limited. Due to the lack of available data, there are no reliable guidelines for pregnant women to follow if exposed. Given the known teratogenicity of retinoids, pregnancies that have been exposed to systemic retinoids often result in termination either spontaneously or through medical intervention (81,82). It is recommended that counseling be individualized for each patient. Initial counseling includes a discussion of the individual risk of teratogenicity and what options exist for the individual patient. Some women may decide to terminate their pregnancy, while others may not. A maternal fetal medicine consultant may be an appropriate referral. In subsequent antenatal care, identification of developing malformations could lead to a late termination of pregnancy. While there are few guidelines for antenatal management, some interventions may supplement antenatal care. High-dose folic acid is thought to reduce the risk of neural tube defects; however, this benefit may be limited, as the neural tube closes around day 30 of development and women often present later than this. At 16–19 weeks, alpha-fetoprotein levels may indicate neural tube defects (22); however, ultrasound imaging at this time may be a more reliable option. Unfortunately, not all affected fetuses will show defects that are identifiable via imaging (30,83). Last, long-term developmental problems may not be possible to predict (22).
Prenatal diagnosis and reproductive genetics
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
One of the inevitable drawbacks of amniocentesis, especially when involving cultured cells, was the late diagnosis and correspondingly late termination of pregnancy involved. The possibility of first trimester prenatal diagnosis based on chorionic villus sampling (CVS), with a diagnosis possible by the 10–12th week of pregnancy, was thus a major advance in terms of acceptability, particularly for members of religions where later termination is forbidden but early termination before ‘ensoulment’ has occurred may be acceptable, as in Islam. Britain cannot claim to be an innovator of this technique, which was established by obstetrician Bruno Brambati and his scientist colleague Giuseppi Simoni in Italy (Brambati et al. 1986); an even earlier (and undoubtedly premature) attempt had been made in China (Anon 1975). Over the following years a major international initiative was coordinated by Laird Jackson (Philadelphia) through the CVS Newsletter, which provided worldwide data on safety and accuracy.
Recurrent Medical Termination of Pregnancy, Not Always the Same Pathology
Published in Fetal and Pediatric Pathology, 2021
Evidence and data regarding recurrent TOP are scarce and heterogeneous and therefore it is difficult to compare our data to other case series. Barel et al. evaluated a cohort of 777 cases of TOP in order to assess the fetal indications of very late termination of pregnancy (VLTOP) (>28 weeks of gestation) compared to earlier terminations, concluding that both groups shared the same main indication, namely anatomical abnormalities, although with a prevalence of central nervous system malformations in the first group [13]. Similarly, in our cohort of 710 singleton TOPs, the main indication of termination was the presence of a morphologic anomaly in 45% of cases, followed by chromosomal abnormalities in 40%. Conversely, the most common cause of TOP among the population with recurrent TOP was a chromosomal abnormality, in the majority of cases due to trisomy 21. As expected, these cases were significantly associated with a higher maternal age and were diagnosed and terminated earlier.