Maternal genetic diseases: potential concerns for mother and baby
- PDF / 670,072 Bytes
- 10 Pages / 595.276 x 790.866 pts Page_size
- 63 Downloads / 175 Views
REVIEW
Maternal genetic diseases: potential concerns for mother and baby Julie Stone1 · Dallas Reed1 Received: 24 April 2019 / Accepted: 29 October 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019
Abstract With advances in medical care, many women with genetic conditions previously known to decrease life expectancy are reaching childbearing age. Thus, it is important to understand the management of patients in the preconception, antepartum, and postpartum periods as they pose a unique challenge to the obstetrician. Most rare disorders lack well-established clinical guidelines for management in pregnancy. Existing data stem from case reports, case series, and expert opinion. We aim to summarize these recommendations and develop a clinical reference for managing reproductive age women with these conditions. We review recommendations for women with inborn errors in metabolism, connective tissue disorders, skeletal dysplasia, and selected single gene disorders. In all cases, it is crucial to employ a multidisciplinary team to optimize care for patients with rare disease before, during, and immediately after their pregnancies. The emphasis on expert consensus recommendations in the guidance of obstetric care is a signal that more studies are needed to determine best practices.
Introduction Advances in medical care have allowed women with genetic conditions previously known to decrease life expectancy to reach childbearing age. Thus, it is important to understand the management of patients with these disorders in the preconception, antepartum, and postpartum periods as they pose a unique challenge to the obstetrician. A multidisciplinary team is needed to optimize care for these patients. A perinatologist should be central to the preconception and pregnancy care for women with genetic conditions. Referral to a Geneticist or Genetic Counselor is appropriate for all patients with genetic disorders that are considering pregnancy. Genetic counseling is crucial in allowing couples to talk through several issues. An initial non-directive discussion of preconception and prenatal options can help couples make decisions about next steps. In some cases, a clinical diagnosis has been established or suspected, but molecular genetic testing may not have been performed. For couples who would like to pursue in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) or invasive diagnostic testing during pregnancy, a molecular diagnosis must first be established. Diagnostic prenatal genetic testing can * Dallas Reed [email protected] 1
Tufts Medical Center, 800 Washington Center, Boston, MA 02111, USA
be performed by targeted sequencing after obtaining placental or fetal DNA from chorionic villus sampling (CVS) at 10–13 weeks gestation or amniocentesis starting at 15 weeks gestation. In addition, in autosomal recessive disorders carrier screening for the unaffected partner is necessary for more precise estimations of possible reproductive outcomes. Possible outcomes for affected offspri
Data Loading...
