Second Trimester Antenatal Diagnosis in Rare Coagulation Factor Deficiencies Leenam Mota, BSc, Kanjaksha Ghosh, MD, and Shrimati Shetty, PhD Summary: Prenatal diagnosis is sought after for those genetic disorders, whose management is not satisfactory either because of the outcome or owing to extreme cost involved in the management of the patients affected by a specific disorder. Severe hemophilia and homozygous thalassemia are the 2 disorders for which there is an increasing demand for prenatal diagnosis in India. Rare severe deficiencies of coagulation factor X (FX) and factor VII (FVII) may present with severe bleeding manifestations. Because of their rarity the laboratory offering prenatal diagnosis for severe hemophilia and thalassemia may not be in a position to provide genetic diagnosis in the fetus. In this communication, we describe 2 families, 1 with an index patient of severe FVII deficiency and the other with severe FX deficiency where successful prenatal diagnosis was given after cordocentesis between 17 and 19 weeks using a battery of coagulation factor assays. Follow-up studies were performed 3 to 4 months after delivery and the diagnoses were reconfirmed on these babies by a repeat factor assay for FX and FVII deficiency, respectively. Key Words: factor X deficiency, cordocentesis, factor VII deficiency (J Pediatr Hematol Oncol 2007;29:137–139) T he X-linked coagulation factor deficiencies, that is, hemophilia A and B are the commonest genetic coagulation defects with their prevalence ranging from 1 in 10,000 to 1 in 30,000 male births. 1 Deficiencies of other coagulation factors such as FVII and FX are autosomal recessive disorders and their prevalence varies between 1:5,00,000 and 1:10,00,000. 2 In developing countries like India, molecular biologic procedures are not adequately available for many of the commonly prevailing genetic disorders. Although deficiencies of rare coagulation disorders are not as common, the prevalence is high in certain communities in India where endogamous and consanguineous marriages are common like that of Jews and Muslims. There are no reports of the antenatal diagnosis performed in case of rare coagulation factor deficiencies from India. We report the first antenatal diagnosis performed in the second trimester of pregnancy at our center in 2 families, one each with FVII and X deficiency. MATERIAL AND METHODS Case 1 A 25-year-old lady was referred to us from Indore in Madhya Pradesh at 18.5 weeks of pregnancy for antenatal diagnosis of FX deficiency. She had 1 daughter with severe FX deficiency (FX: C<1%) with severe bleeding manifestations including hemarthrosis; however, no other family members were affected. The family was counseled about the possibilities of the second child also having FX deficiency, the techniques involved, and the possibility of misdiagnosis. The family wanted to go ahead for antenatal diagnosis (Fig. 1). Case 2 A 24-year-old lady reported to us at 19 weeks of pregnancy for the antenatal diagnosis of severe FVII deficiency. She had 2 sons with severe FVII deficiency (FVII: C<1%) diagnosed at our center. Both the affected children died of cerebral hemorrhage at the age of 5 weeks and 13 months, respectively. As there was no index case when she came to us for the antenatal diagnosis, the family was counseled for the second trimester antenatal diagnosis and they gave their consent (Fig. 2). FIGURE 1. Family pedigree of FX deficient family. Copyright r 2007 by Lippincott Williams & Wilkins Received for publication September 3, 2006; accepted December 21, 2006. From the Institute of Immunohaematology (ICMR), KEM Hospital, Parel, Mumbai 400012, India. Reprints: Dr Kanjaksha Ghosh, MD, Institute of Immunohaematology (ICMR), 13th Floor, New MS Bldg, KEM Hospital Campus, Parel, Mumbai 400012, India (e-mail: kanjakshaghosh@hotmail.com). ORIGINAL ARTICLE J Pediatr Hematol Oncol  Volume 29, Number 3, March 2007 137