Karyotyping (Products of Conception) with reflex FISH

Karyotyping (Products of Conception) with Reflex FISH is a specialized genetic test performed on tissue obtained after a miscarriage, stillbirth, or pregnancy loss. The test is designed to identify chromosomal abnormalities that may have contributed to the loss of the pregnancy and provide valuable information for future reproductive planning.

Products of Conception (POC) refer to fetal and placental tissues collected following pregnancy loss. Chromosomal abnormalities are among the most common causes of first-trimester and early pregnancy miscarriages. Analyzing these tissues can help determine whether a genetic abnormality was responsible for the pregnancy loss.

This testing combines conventional karyotyping with reflex Fluorescence In Situ Hybridization (FISH). Karyotyping evaluates the complete chromosome set to identify abnormalities in chromosome number or structure. If the karyotype cannot be completed due to poor cell growth or culture failure, reflex FISH testing is automatically performed to assess common chromosomal abnormalities and increase the likelihood of obtaining clinically useful results.

This combined approach improves diagnostic yield and helps provide answers to couples experiencing pregnancy loss.

Benefits of the Test

• Identifies chromosomal causes of miscarriage
• Helps evaluate recurrent pregnancy loss
• Provides genetic information for future pregnancies
• Improves diagnostic success through reflex FISH testing
• Assists reproductive and fertility specialists
• Supports genetic counseling and family planning

Why Doctors Recommend This Test

Doctors may recommend this test for:

• Miscarriage evaluation
• Recurrent pregnancy loss
• Stillbirth investigation
• Unexplained fetal demise
• Previous pregnancies affected by chromosomal abnormalities
• Genetic counseling after pregnancy loss
• Fertility and reproductive planning

The test helps determine whether chromosome abnormalities were responsible for the pregnancy loss and whether further parental genetic testing may be required.

Preparation Before Test

The test requires:

• Products of conception (POC) tissue obtained after pregnancy loss
• Proper specimen collection and transport
• Clinical history related to pregnancy and miscarriage

No patient preparation is required because the analysis is performed on collected tissue samples.

Normal Reporting Time

• FISH Results (if reflex testing is required): 3–7 working days
• Karyotyping Results: 10–21 working days

Turnaround time may vary depending on tissue quality and laboratory processing.

Who Should Take This Test?

• Couples experiencing miscarriage
• Individuals with recurrent pregnancy loss
• Patients with unexplained fetal loss
• Families seeking answers after pregnancy complications
• Couples undergoing fertility evaluation
• Patients referred for reproductive genetic counseling

This test provides important information regarding the genetic causes of pregnancy loss and may help guide future pregnancy management.

Clinical Significance

The test may identify:

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• Monosomy X (Turner Syndrome)
• Triploidy
• Polyploidy
• Structural chromosomal abnormalities
• Translocations
• Numerical chromosome abnormalities
• Other genetic causes of pregnancy loss

Chromosomal abnormalities account for a significant proportion of early miscarriages, making this test valuable for determining the underlying cause.