Protocols for High-Risk Pregnancies. Группа авторов

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Protocols for High-Risk Pregnancies - Группа авторов

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LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis. Ultrasound Obstet Gynecol 2019; 54(4):442–51.

      11 Society for Maternal‐Fetal Medicine (SMFM), Norton ME, Biggio JR, Kuller JA, Blackwell SC. SMFM Consult Series #42: The role of ultrasound in women who undergo cell‐free DNA screening. Am J Obstet Gynecol 2017; 216(3):B2–B7.

       Joshua A. Copel

      Departments of Obstetrics, Gynecology and Reproductive Sciences, and Pediatrics, Yale School of Medicine, New Haven, CT, USA

      Congenital heart disease occurs in approximately eight of 1000 live births. Of these, approximately half are relatively minor ventricular septal defects or valve stenoses that are of little hemodynamic significance. Some of these can be identified prenatally with sensitive color Doppler flow mapping with little clinical impact, while many others are undetectable prenatally. The remainder are significant lesions that may benefit from prenatal detection, parental counseling, and obstetric‐pediatric planning for delivery and neonatal care.

      Most types of congenital heart disease are thought to be inherited in multifactorial fashion, with both genetic and environmental contributions. The indications used for fetal echocardiography, a prenatal ultrasound technique that can detect most significant congenital heart disease, reflect that etiological diversity. Many patients referred for fetal echocardiography have had prior affected children or other affected family members, and the recurrence risk for these families is about 2–3% if there has been a prior affected child, and 3–5% if one of the parents has congenital heart disease.

      The pathophysiology of congenital cardiac anomalies varies with the type of anatomical abnormality that is present. The underlying mechanisms include failures of cell migration leading to failure of a structure to form, or diminished flow, inhibiting the normal growth of a downstream structure (e.g., poor flow across the foramen ovale and mitral valve predisposing to a coarctation of the aorta).

      Diagnosis and work‐up

Familial risk factors
History of congenital heart disease (CHD)
Previous sibling with CHD
Paternal CHD
Second‐degree relative to fetus with CHD
Mendelian syndromes that include congenital heart disease (e.g., Noonan, tuberous sclerosis)
Maternal risk factors
Congenital heart disease
Cardiac teratogen exposure:
Lithium carbonate
Phenytoin
Valproic acid
Trimethadione
Carbamazepine
Isotretinoin
Paroxetine
Maternal metabolic disorders:
Diabetes mellitus
Phenylketonuria
In vitro fertilization
Fetal risk factors
Suspected cardiac anomaly
Extracardiac anomalies
Chromosomal
Anatomical
Fetal cardiac arrhythmia
Irregular rhythm
Tachycardia (greater than 200 bpm) in absence of chorioamnionitis
Fixed bradycardia
Nonimmune hydrops fetalis
Lack of reassuring four‐chamber view during basic obstetric scan
Monochorionic twins
Increased nuchal translucency space at 11–14 weeks of gestation

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Four chamber