OBJECTIVE The objective of this study was to explore the attitudes of obstetricians in Australia, New Zealand and the UK towards prenatally diagnosed trisomy 18 (T18). METHOD Obstetricians were contacted by email and invited to participate in an anonymous electronic survey. RESULTS Survey responses were obtained from 1018/3717 (27%) practicing obstetricians/gynaecologists. Most (60%) had ma...

Research has typically shown limited aggressive medical interventions and low survival rates for children with full trisomy 18. Recent studies provide more positive results. This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: "hosp...

OBJECTIVES Outcome of the first-trimester Down syndrome screening in younger population was less reported before. We present the outcome of this screening in Taiwanese women younger than 35 years old. We also test whether or not the first-trimester Down syndrome screening of women <35 years of age and women >35 years old routinely receiving amniocentesis is cost-effective compared with all preg...

OBJECTIVES To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. METHODS cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 184...

BACKGROUND Children with trisomy 13 and trisomy 18 (T13-18) have low survival rates and survivors have significant disabilities. For these reasons, interventions are generally not recommended by providers. After a diagnosis, parents may turn to support groups for additional information. METHODS We surveyed parents of children with T13-18 who belong to support groups to describe their experien...

Parents of patients with Down's syndrome show dermatoglyphic features intermediate between the affected and the normal population. Dermatoglyphs were studied on the parents of 19 cases of trisomy 18, but no similar "intermediate" traits were discovered. The number of cases studied needs to be enlarged before it can definitely be stated that trisomies 18 and 21 differ in this respect.

UNLABELLED Children with trisomy 13 and trisomy 18 (T13 or T18) have low survival rates, and survivors have significant disabilities. Life saving interventions (LSIs) are generally not recommended by many healthcare providers (HCPs). After a diagnosis of T13 or T18, many parents chose termination of pregnancy or comfort care at birth, but others consider treatment to prolong the lives of their ...

Much of the literature describes the prognosis for infants with full trisomy 18 as bleak. The case study offered here provides an overview of an infant with this diagnosis who lived for 88.5 days in a Level III neonatal intensive care unit. Care decisions (medical and basic care) and their outcomes are described along with implications for care for infants with a diagnosis often characterized a...

OBJECTIVE To study PAPP-A and SP1 for biochemical trisomy screening in twin pregnancies and to investigate the role of maternal and placental compartments in marker production by comparing the levels of the decidual cytokine M-CSF with the PAPP-A and SP1 from the placenta. METHODS Thirteen twin pregnancies with at least one chromosomally abnormal fetus were compared with 68 normal twin pregna...

A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among the medical team about what threshold of neonatal benefit could outweigh matern...