Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

Abstract

Objective

Prevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99th percentile and normal karyotype

“…It has been suggested that this sign might constitute an early manifestation of TTTS 3,4 , but this notion has been questioned in more recent studies 5,6,22 . Therefore, it is suggested that this finding in a monochorionic twin should prompt a search for signs of TTTS.…”

“…Earlier reports suggested an association between increased NT (> 95 th percentile) in one fetus and subsequent development of twin-twin transfusion syndrome (TTTS) 3,4 , but according to recent studies this association is controversial 5,6 . In a recent series of monochorionic twins, a ≥ 20% discordance in NT was found to increase the risk of subsequent fetal demise or severe TTTS to more than 30% 7 .…”

Perinatal Mortality in Multiple Pregnancy

“…Twin pregnancies have an increased risk of congenital malformations, especially monochorionic twins (Sperling et al, 2007). Congenital anomalies may be the result of the teratogenic insult responsible for the twinning.…”

“…The incidence of congenital malformations was 3.2% among monozygotic and 2.2% among dizygotic twins. Cardiac abnormalities accounted for 68% of all abnormalities (Sperling et al, 2007).…”

“…Other complications include growth retardation, twin anemia polycythemia sequence, twin reversed arterial perfusion, congenital heart disease due to vascular instability, fetal demise, and long-term neonatal and pediatric morbidity secondary to vascular insults in fetal brain, heart and kidneys . Vascular disruptive sequences cumulating in TTTS can include infarction of the intestine or skin resulting in widespread skin aplasia or intestinal atresia, or infarction of the brain, kidneys, liver and lungs (Sperling et al, 2007).…”