CYTOGENEOM

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

FACTS

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

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

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Recurrent miscarriages may occur due to diverse range of causes.

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

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

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

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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

TESTS

CYTOGENTICS:

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Peripheral Blood Karyotype- Couple

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

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

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Chromosome Microarray (CMA) Targeted genome

MOLECULAR GENETICS:

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MTHFR (A222V/C677T) mutation analysis

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Factor V Leiden (FVL R506Q/ G1691A)

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Factor II/Prothrombin (FII G20210A) mutation

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DNA extraction & storage for POC

Antiphopholipid Syndrome:

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Lupus Anticoagulant

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Anticardiolipin IgG or IgM antibodies

ENDOCRINE:

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TSH, Prolactin

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HBA1c & other hormones as indicated

Pathology:

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Placental pathology

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Fetal Autopsy