Serum markers for Down's syndrome in women who have had in vitro fertilisation: implications for antenatal screening

Abstract

To examine the Down's syndrome screening positive rate among in vitro fertilisation (IVF) pregnancies, we measured second trimester serum marker levels in singleton IVF pregnancies (cases) and in five non-IVF pregnancies (controls) matched to each case for gestational age, age of mother, and duration of storage of the serum sample. There were 15 1 IVF pregnancies in which alpha fetoprotein, unconjugated oestriol (LIE?), free P-human chorionic gonadotrophin (hCG) and total hCG were measured, 104 IVF pregnancies in which free a-hCG was measured, and 39 IVF pregnancies in which inhibin A was measured. Median uE, levels were 6% lower (P = 0.003), median free P-hCG 9% higher (P = 0.024), and median total hCG 14% higher ( P = 0.026) in IVF pregnancies compared with controls. The screen positive rate in the IVF pregnancies (28%) was about twice as high as that in controls (17%). High hCG levels may be explained by progesterone remaining high in IVF pregnancies. The low uE, levels remain unexplained. In Down's syndrome screening in IVF pregnancies hCG and uE, values should be adjusted to avoid the high screen positive rate.

In combined first-trimester Down syndrome screening, the false-positive rate is not higher in pregnancies conceived after assisted reproduction compared with spontaneous pregnancies

“…Pregnancies conceived by assisted reproduction techniques (ART) have been reported to be associated with changes in the biochemical parameters of screening for DS, leading to an increased false-positive rate (FPR) in the second trimester (1)(2)(3)(4)(5)(6). The effect of ART on first-trimester Down screening, which combines maternal age, nuchal translucency thickness (NT), maternal serum free b subunit human chorionic gonadotropin (fb-hCG), and pregnancy-associated plasma protein-A (PAPP-A), has been examined, but the results have been inconclusive.…”

Distal vaginal atresia resulting in obstructive uropathy accompanied by acute renal failure

“…However, associated syndromes such as Meyer-Rokitansky and McKusick-Kaufman syndromes have been reported. 2,7 Meyer Rokitansky syndrome is characterized by primary amenorrhea, uterine abnormalities, normal ovarian function and ovulation, and other congenital malformations (e.g., skeletal, renal). In our patient, there were no signs suggesting these syndromes.…”

Validation of Correction Factors for Serum Markers for First-Trimester Down Syndrome Screening in Singleton Pregnancies Conceived with Assisted Reproduction

“…Counseling for prenatal screening of women carrying an ART pregnancy is complicated due to contradictory reports in FTS performance in ART pregnancies. Several studies reported higher false-positive rate (FPR) compared to spontaneously conceived pregnancies [5,6,7,8,9,10,11], some studies found higher FPR even after correction for maternal age [12,13,14,15] and others reported similar FPR [16,17,18,19,20]. Whether the prevalence of fetal chromosomal abnormalities in ART pregnancies is different from naturally conceived pregnancies is however unclear.…”

“…In ART pregnancies maternal serum marker levels change during the first trimester affecting the risk assessment for DS [5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26]. Counseling for prenatal screening of women carrying an ART pregnancy is complicated due to contradictory reports in FTS performance in ART pregnancies.…”