Blood test during pregnancy to check the baby for inherited gene disorders

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for pregnant women, 9 weeks or more into a single pregnancy, who have a family history of a single-gene disorder and are having invasive prenatal diagnosis. A blood test is studied as a safer way to diagnose.

Age

18 years or older

Sex

Women only

Disease stage

Pregnancy of 9 weeks of amenorrhea or more, one baby only.

Biomarker or test result

A disease-causing gene change in the mother and/or father must already be known, in one of these genes: HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1. Women with maternal history of diabetes MODY-GCK in prenatal counselling can also join.

Main reasons for not taking part

• Risk of a single-gene disorder from a new (de novo) disease-causing gene change in a previous child
• Woman under legal protection
• Pregnancy with more than one baby

This trial only enrols pregnant participants. The registry sentence this rests on: pregnant woman with 9 weeks of amenorrhea or more

The registry criteria, word for word

What the trial wants to find out

Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.

The 2 groups in the trial

• pregnant women undergoing invasive PND in a context of family history of SGD

  SGD-NIPD will be proposed by CPDPN recruitment centres to pregnant women undergoing invasive PND in a context of family history of SGD because of parental pathogenic mutation.s in one of the following gene: HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1.

  Treatment: Blood sample

• pregnant women undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK

  Treatment: Blood sample