Показання до проведення генетичного діагностичного дослідження плода

Desire for testing

ACOG recommends that all pregnant women be offered noninvasive and invasive testing to assess fetal karyotype, regardless of maternal age.

Previous recurrent spontaneous abortions

Chromosome analysis may be indicated for both parents.

Chromosomal abnormality in a previous child

Chromosome analysis may be indicated for both parents.

Paternal age > 50

Testing is controversial because, although older paternal age increases risk of some pathogenic gene variants, the number and loci of possible de novo pathogenic gene variants are extensive, making testing problematic. However, exome testing, which is under study, may be useful because it uses a single laboratory test to identify many pathogenic gene variants.

Parental chromosomal disorder

Based on specific abnormality, not all parental chromosomal rearrangements are associated with risks to offspring.

Suspected parental sex-linked mendelian disorder

Specific pathogenic gene variant of parents must be known to offer testing.

Autosomal recessive mendelian disorder diagnosed or suspected in both parents

Specific pathogenic gene variant of parents must be known to offer testing.

Abnormal cell-free DNA analysis from maternal plasma

Chorionic villus sampling during the first trimester or amniocentesis during the second trimester is done.

Levels of maternal serum markers* suggesting trisomy 21 or trisomy 18

Chorionic villus sampling during the first trimester or amniocentesis during the second trimester is done.

Elevated maternal alpha-fetoprotein and indeterminate ultrasound results

Amniocentesis is done.

Structural abnormalities in the fetus (including increased nuchal translucency in the first trimester) noted during ultrasonography

Risk of fetal chromosomal abnormality depends on specific anatomic findings.