• D-82A, SECTOR-26,Noida
  • +91-8130416005,+91-7042704704
  • info@cytogeneom.com

Now Treat Your Recurrent Pregnancy Loss (RPL) patients as per Recommended Guidelines Recurrent Pregnancy Loss (RPL): As per Etiology, Diagnosis, and Therapy


Miscarriage is the most common complication of pregnancy. it is estimated to be responsible for ending 10-15% of clinically diagnosed pregnancies.

Recurrent pregnancy loss is defined by two or more failed clinical pregnancies.

Recurrent miscarriages may occur due to diverse range of causes.

The majorities of miscarriages are sporadic and are thought to result from genetic causes that are greatly influenced by maternal age.

Knowledge of the genetic background of miscarriage is very important for prognosis, as well as to plan prenatal diagnosis in subsequent pregnancies.

Targeted genomic diagnosis are required following a clinical observation by ultrasound or pathological examination of the fetus.

Upto 50% of cases with RPL will not have a clearly defined etiology.

The Practice Committee of the American Society of Reproductive Medicine “Evaluation and treatment of recurrent pregnancy loss: a committee opinion” Fertility and Sterility Vol 98, No.5, November 2012

Major Suspected Causes of Recurrent Pregnancy Loss

SNo Causes Contribution to RPL (%) Recommended Screening Supportive Scientific Evidence
1 Cytogenetic 2-5% Peripheral Karyotyping analysis of the parents Karyotypic analysis of Product of Conception karyotyping, array CGH, MLPA, NGS Chromosome abnormalities in one of parents,balanced reciprocal translocations
2 Antiphospholipid Syndrome 8-42% (Mean 15) Screening for Lupus anticoagulant Anticardiolipin IgG or IgM antibodies, anti-β2, glycoprotein 1 IgG and IgM antibodies, apL testing for other phospholipids and β2 glycoprotein 1
3 Anatomic 1.8-37.6% (Mean 12.6) Hyterosalpinogography, Sonohyterography and or hyteroscopy. Congenital uterine abnormalities
4 Hormonal or Metabolic Prolactin, TSH, Hemoglobin A1c Uncontrolled diabetes or thyroid disease, prolactin
5 Inherited (congenitial) Thrombophilia’s Factor V(G1691A,T1328C Leidenmutation),Prothrombin gene mutation (G20210A),Protein C,Protein S and antithrombin deficiencies. Cases observed 7th week of gestation. Also justified in patient with Venous thromboembolism or in first degree relative



Peripheral Blood Karyotype- Couple

Product of Conception (POC) – Karyotype (chromosome analysis)

FISH (13, 18, 21, X & Y)

Chromosome Microarray (CMA) Targeted genome


MTHFR (A222V/C677T) mutation analysis

Factor V Leiden (FVL R506Q/ G1691A)

Factor II/Prothrombin (FII G20210A) mutation

DNA extraction & storage for POC

Antiphopholipid Syndrome:

Lupus Anticoagulant

Anticardiolipin IgG or IgM antibodies


TSH, Prolactin

HBA1c & other hormones as indicated


Placental pathology

Fetal Autopsy