About 3% of all
conceptions are associated with major congenital malformations, many of them
are lethal developmental defect and genetic in origin or teratogenic (adverse
effects of the environment during gametogenesis or early embryogenesis).
Genetics with or without adverse environment has role in virtually every
developmental defect/malformation disorders in causation, predisposition,
susceptibility & modulation of disease. Advances in genetics, introduction
of triple marker screening, routine obstetric ultrasound examination into
obstetric practice & accesses to prenatal diagnosis helped in secondary
prevention (early detection & termination) of lethal developmental defects.
Ultrasound detection of fetal developmental defects/malformation is common now
and often decision on pregnancy solely based on ultrasonic morphological
description. This practice leads to difficulty in providing accurate counseling
as well as preventing disorder in subsequent pregnancy, in particular early.
Hence an understanding of reproductive genetics of major developmental
disorders is important for today’s perinatal care specialists. This overview
will outline the various lethal developmental defects observed in an advanced
reproductive genetics set up and various approaches adopted to derive
diagnosis. Detailed assessment of fetus aftertermination
of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most
cases.As most cases was referred
after termination in formalin routine chromosomal analysis was not possible
however, in selected cases targeted FISH analysis with specific chromosomal
probe was carried out to confirm clinical diagnosis. Detailed evaluation of
fetus is important as this practice often helped in modification of genetic
counseling, as well as course of management in the next pregnancy. No molecular
diagnostic or screening work was carried out due to non availability of
information and facility in past. However, this is important today as many of
the lethal developmental defects are yet to be categorized etiopathologically,
and hence immediate need is to start clinical registry along with biorepository
of developmental defects cases for future research work on informative
families, in particular with multiple affected fetuses/sibs, using
References
[1]
Kalter, I.T. and Warkany, J. (1983) Congenital Malformation Etiologic Factors and Their Role in Prevention. Parts I and II. The New England Journal of Medicine, 308, 424-431, 491-497.
http://dx.doi.org/10.1056/NEJM198302243080804
[2]
Nelson, K. and Holmes, L.B. (1989) Malformations Due to Presumed Spontaneous Mutations in Newborn Infants. The New England Journal of Medicine, 320, 19-23. http://dx.doi.org/10.1056/NEJM198901053200104
[3]
Verma, I.C. (2000) Burden of Genetic Disorders in India. Indian Journal of Pediatrics, 67, 893-898.
http://dx.doi.org/10.1007/BF02723953
[4]
Mitchell, L.E. (2005) Epidemiology of Neural Tube Defects. American Journal of Medical Genetics Part C—Seminars in Medical Genetics, 135, 88-94. http://dx.doi.org/10.1002/ajmg.c.30057
[5]
Sharma, A.K., Upreti, M., Kamboj, M., Mehra, P., Das, K., Misra, A., Dhasmana, S. and Agarwal, S.S. (1994) Incidence of Neural Tube Defects of Lucknow over a 10-Year Period from 1982-1991. Indian Journal of Medical Research, 99, 223-226.
[6]
Agarwal, S., Chadda, V., Sharan, R. and Halder, A. (2003) Rapid Prenatal Diagnosis of Trisomy 18 by Interphase FISH. Asian Journal of Obs & Gynae Practice, 7, 14-15, 23.
[7]
Coerdt, W., Miller, K., Holzgreve, W., Rauskolb, R., Schwinger, E. and Rehder, H. (1997) Neural Tube Defects in Chromosomally Normal and Abnormal Human Embryos. Ultrasound in Obstetrics & Gynecology, 10, 410-415.
http://dx.doi.org/10.1046/j.1469-0705.1997.10060410.x
[8]
Luo, J., Balkin, N., Stewart, J.F., Sarwark, J.F., Charrow, J. and Nye, J.S. (2000) Neural Tube Defects and the 13q Deletion Syndrome: Evidence for a Critical Region in 13q33-34. American Journal of Medical Genetics, 91, 227-230.
http://dx.doi.org/10.1002/(SICI)1096-8628(20000320)91:3<227::AID-AJMG14>3.0.CO;2-I
[9]
Bird, L.M., Pretorius, D.H., Mendoza, A.E. and Jones, M.C. (1997) Anencephaly with Holoprosencephalic Facies Due to Ring Chromosome 18. Clinical Dysmorphology, 6, 351-358. http://dx.doi.org/10.1097/00019605-199710000-00009
[10]
Chen, C.P., Chern, S.R., Lee, C.C., Chen, W.L. and Wang, W. (2001) Prenatal Diagnosis of Mosaic Ring Chromosome 13 with Anencephaly. Prenatal Diagnosis, 21, 102-105.
http://dx.doi.org/10.1002/1097-0223(200102)21:2<102::AID-PD992>3.0.CO;2-5
[11]
Chen, C.P., Liu, F.F., Jan, S.W., Wang, K.G. and Lan, C.C. (1996) Prenatal Diagnosis of Partial Monosomy 13q Associated with Occipital Encephalocele in a Fetus. Prenatal Diagnosis, 16, 664-666.
http://dx.doi.org/10.1002/(SICI)1097-0223(199607)16:7<664::AID-PD924>3.0.CO;2-K
[12]
Donaldson, S.J., Wright, C.A. and de Ravel, T.J. (1999) Trisomy 18 with Total Craniorachischisis and Thoraco-Abdominoschisis. Prenatal Diagnosis, 19, 580-582.
http://dx.doi.org/10.1002/(SICI)1097-0223(199906)19:6<580::AID-PD583>3.0.CO;2-K
[13]
O’Reilly, G.C. and Shields, L.E. (2000) Karyotyping for Isolated Neural Tube Defects. A Report of Two Cases. The Journal of Reproductive Medicine, 45, 950-952.
[14]
Jauniaux, E., Halder, A. and Partington, C. (1998) A Case of Partial Mole Associated with Trisomy 13. Ultrasound in Obstetrics Gynecology, 11, 62-64. http://dx.doi.org/10.1046/j.1469-0705.1998.11010062.x
[15]
Howkins, J. and Lawrie, R.S. (1939) Iniencephalus. BJOG: An International Journal of Obstetrics & Gynaecology, 46, 25-31. http://dx.doi.org/10.1111/j.1471-0528.1939.tb05313.x
[16]
Patterson, S.J. (1944) Iniencephalus. BJOG: An International Journal of Obstetrics & Gynaecology, 51, 330-333.
http://dx.doi.org/10.1111/j.1471-0528.1944.tb07349.x
[17]
Stark, A.M. (1951) A Report of Two Cases of Iniencephalus. BJOG: An International Journal of Obstetrics & Gynaecology, 58, 462-464. http://dx.doi.org/10.1111/j.1471-0528.1951.tb04027.x
[18]
Jayant, K., Mehta, A. and Sanghvi, L.D. (1960) A Study of Congenital Malformations in Bombay. The Journal of Obstetrics and Gynecology of India, 11, 280-297.
[19]
Halder, A., Pahi, J., Pradhan, M., Pandey, A., Gujral, R. and Agarwal, S.S. (1998) Iniencephaly: A Report of 19 Cases. Indian Pediatrics, 35, 891-896.
[20]
Wigglesworth, J.S. and Singer, D.B. (1991) Text Book of Fetal and Perinatal Pathology. Blackwell Scientific Publications, London, 11-48.
[21]
Streeter, G.L. (1951) Developmental Horizons in Human Embryos. Age Group XI to XXIII. In: Heuser, C.H. and Corner, G.W., Eds., Embryology Reprint, Vol. II, Carnegie Institute, Washington DC, 165-196.
[22]
Scherrer, C.C., Hammer, F., Schinzel, A. and Briner, J. (1992) Brain Stem and Cervical Cord Dysraphic Lesions in Iniencephaly. Fetal & Pediatric Pathology, 12, 469-476. http://dx.doi.org/10.3109/15513819209023327
[23]
Van Allen, M.I., Kalousek, D.K., Chernoff, G.F., Juriloff, D., Harris, M. and McGillivary, B.C. (1993) Evidence for Multisite Closure of Neural Tube in Humans. American Journal of Medical Genetics, 47, 723-743.
http://dx.doi.org/10.1002/ajmg.1320470528
[24]
Casbay, L., Szabo, I., Papp, C., Toth-Pal, E. and Papp, Z. (1998) Central Nervous System Anomalies. Annals of the New York Academy of Sciences, 847, 21-45. http://dx.doi.org/10.1111/j.1749-6632.1998.tb08924.x
[25]
Erdincler, P., Kaynar, M.Y., Canbaz, B., Kocer, N., Kuday, C. and Ciplak, N. (1998) Iniencephaly: Neuroradiological and Surgical Features. Case Report and Review of the Literature. Journal of Neurosurgery, 89, 317-320.
http://dx.doi.org/10.3171/jns.1998.89.2.0317
[26]
Pahi, J., Phadke, S.R., Halder, A. and Agarwal, S.S. (1998) Does Autopsy of Antenataly Diagnosed Malformed Fetuses Aid Genetic Counseling? The National Medical Journal of India, 11, 169-170.
[27]
Halder, A., Agarwal, S. and Pandey, A. (2005) Iniencephaly and Chromosome Mosaicism: A Report of Two Cases. Congenital Anomalies, 45, 102-105. http://dx.doi.org/10.1111/j.1741-4520.2005.00076.x
[28]
Phadke, S.R. and Thakur, S. (2002) Prenatal Diagnosis of Iniencephaly and Alobar Holoprosencephaly with Trisomy 13 Mosaicism: A Case Report. Prenatal Diagnosis, 22, 1240-1241. http://dx.doi.org/10.1002/pd.484
[29]
Seller, M.J., Mazzaschi, R., Ogilvie, C.M. and Mohammed, S. (2004) A Trisomy 2 Fetus with Severe Neural Tube Defects and Other Abnormalities. Clinical Dysmorphology, 13, 25-27.
http://dx.doi.org/10.1097/00019605-200401000-00006
[30]
Opitz, J.M. and Gilbert, E.F. (1982) CNS Anomalies and the Midline as a Developmental Field. American Journal of Medical Genetics, 12, 443-455. http://dx.doi.org/10.1002/ajmg.1320120408
[31]
Rodriguez, J.I. and Palacios, J. (1992) Craniorachischisis Totalis and Sirenomelia. American Journal of Medical Genetics, 43, 732-736. http://dx.doi.org/10.1002/ajmg.1320430416
[32]
Halder, A., Pahi, J., Chadda, V. and Agarwal, S.S. (2001) Sirenomelia Sequence Associated with Craniorachischisis Totalis, Limb Reduction and Primitive heart: A Case Report. Indian Pediatrics, 38, 1041-1045.
[33]
O’Rahilly, R. and Muller, F. (1989) Interpretation of Some Median Anomaly as Illustrated by Cyclopia and Symmelia. Teratology, 40, 409-411. http://dx.doi.org/10.1002/tera.1420400502
[34]
Rizzo, N., Pittalis, M.C., Pilu, G., Orsini, L.F., Perolo, A. and Bovicelli, L. (1990) Prenatal Karyotyping in Malformed Fetuses. Prenatal Diagnosis, 10, 17-23. http://dx.doi.org/10.1002/pd.1970100104
[35]
De Veciana, M., Major, C.A. and Porto, M. (1994) Prediction of Abnormal Karyotype in Fetuses with Omphalocele. Prenatal Diagnosis, 14, 487-492. http://dx.doi.org/10.1002/pd.1970140613
[36]
Gross, S.J., Shulman, L.P., Tolley, E.A. and Emerson, D.S. (1995) Isolated Choroid Plexus Cyst and Trisomy 18: A Review and Metanalysis. American Journal of Obstetrics & Gynecology, 172, 83-87.
http://dx.doi.org/10.1016/0002-9378(95)90088-8
[37]
Torpin, R. (1965) Amniochorionic Mesoblastic Fibrous Strings and Amnionic Bands: Associated Constricting Fetal Malformations or Fetal Death. American Journal of Obstetrics & Gynecology, 91, 65-75.
[38]
Higginbottom, M.C., Jones, K.L., Hall, B.D. and Smith, D.W. (1979) The Amniotic Band Disruption Complex: Timing of Amniotic Rupture and Variable Spectra of Consequent Defects. Journal of Pediatrics, 95, 544-549.
http://dx.doi.org/10.1016/S0022-3476(79)80759-3
Kalousek, D.K. and Bamforth, S. (1988) Amnion Rupture Sequence in Previable Fetuses. American Journal of Medical Genetics, 31, 63-73. http://dx.doi.org/10.1002/ajmg.1320310110
[41]
Halder, A. (2010) Amniotic Band Syndrome and/or Limb Body Wall Complex: Split or Lump. The Application of Clinical Genetics, 3, 7-15. http://dx.doi.org/10.2147/TACG.S8894
[42]
Streeter, G.L. (1930) Focal Deficiency in Fetal Tissues and Their Relation to Intrauterine Amputation. Contributions to Embryology (Carnegie Institution of Washington), 33, 41-49.
[43]
Bamforth, J.S. (1992) Amniotic Band Sequence: Streeter’s Hypothesis Reexamined. American Journal of Medical Genetics, 44, 280-287. http://dx.doi.org/10.1002/ajmg.1320440304
[44]
Donnai, D. and Winter, R.M. (1989) Disorganisation: A Model for Early Amnion Rupture? Journal of Medical Genetics, 26, 421-425. http://dx.doi.org/10.1136/jmg.26.7.421
[45]
Van Allen, M.I. (1981) Fetal Vascular Disruptions: Mechanisms and Some Resulting Birth Defects. Pediatric Annals, 10, 219-233.
[46]
Van Allen, M.I. (1992) Structural Anomalies Resulting from Vascular Disruption. Pediatric Clinics of North America, 39, 255-277.
[47]
Miller, M.E., Graham Jr., J.M., Higginbottom, M.C. and Smith, D.W. (1981) Compression Related Defects from Early Amnion Rupture: Evidence for Mechanical Teratogenesis. Journal of Pediatrics, 98, 292-297.
http://dx.doi.org/10.1016/S0022-3476(81)80664-6
[48]
Holzgreve, W., Curry, C.J., Golbus, M.S., Callen, P.W., Filly, R.A. and Smith, J.C. (1984) Investigation of Nonimmune Hydrops Fetalis. American Journal of Obstetrics & Gynecology, 150, 805-812.
http://dx.doi.org/10.1016/0002-9378(84)90453-8
[49]
Hutchison, A.A., Drew, J.H., Yu, V.Y., Williams, M.L., Fortune, D.W. and Beischer, N.A. (1982) Nonimmunologic Hydrops Fetalis: A Review of 61 Cases. Obstetrics & Gynecology, 59, 347-352.
[50]
Potter, E.L. (1943) Universal Edema of Fetus Unassociated with Erythroblastosis. American Journal of Obstetrics & Gynecology, 46, 130.
[51]
Maidman, J.E., Yeager, C., Anderson, V., Makabali, G., O’Grady, J.P., Arce, J. and Tishler, D.M. (1980) Prenatal Diagnosis and Management of Nonimmunologic Hydrops Fetalis. Obstetrics & Gynecology, 56, 571-576.
[52]
Ballantyne, J.W. (1982) The Diseases and Deformities of the Fetus. Oliver & Boyd, Edinburgh.
[53]
Villaespesa, A.R., Suarez Mier, M.P., Lopez Ferren, P., Baleriola, A. and Rodriguez Gonzalez, J.I. (1990) Nonimmunologic Hydrops Fetalis: An Etiopathogenetic Approach through the Postmortem Study of 59 Patients. American Journal of Medical Genetics, 35, 274-279. http://dx.doi.org/10.1002/ajmg.1320350226
[54]
Santolaya, J., Alley, D., Jalfe, R. and Wersof, S.L. (1992) Antenatal Classification of Hydrops Fetalis. Obstetrics & Gynecology, 79, 256-259.
[55]
Halder, A. (2007) Nonimmunologic Hydrops Fetalis Associated with True Knot of Umbilical Cord: A Necropsy Study. Journal of the Turkish German Gynecological Association, 8, 420-423.
[56]
Keeling, J.W. (1991) Hydrops Fetalis and Other Forms of Excess Fluid Collection in the Fetus. In: Wigglesworth, J.S. and Singer, D.B., Eds., Textbook of Fetal and Perinatal Pathology, Blackwell Scientific Publications, Oxford, 429-454.
[57]
Donnelly, D.E., McConnell, V., Paterson, A. and Morrison, P.J. (2010) The Prevalence of Thanatophoric Dysplasia and Lethal Osteogenesis Imperfecta Type II in Northern Ireland—A Complete Population Study. Ulster Medical Journal, 79, 114-118.
[58]
Abdulkadir, A.Y., Isyaku, K., Dare, A., Abdullahi, S.G., Idris, S.K. and Tabari, A.M. (2008) Prenatal Third Trimester Sonographic Behavior of a Thanatophoric Dwarfs. Journal of Prenatal Medicine, 2, 42-46.
[59]
Wattanasirichaigoon, D. and Charoenpipop, D. (2006) Thanatophoric Dysplasia: Roentgenographic Findings and Detection of a de Novo Mutation of FGFR3 Gene in a Thai Patient. Journal of the Medical Association of Thailand, 89, 1287-1292.
[60]
Chen, C.P., Chern, S.R., Shih, J.C., Wang, W., Yeh, L.F., Chang, T.Y. and Tzen, C.Y. (2001) Prenatal Diagnosis and Genetic Analysis of Type I and Type II Thanatophoric Dysplasia. Prenatal Diagnosis, 21, 89-95.
http://dx.doi.org/10.1002/1097-0223(200102)21:2<89::AID-PD21>3.0.CO;2-9
[61]
Kitoh, H., Brodie, S.G., Kupke, K.G., Lachman, R.S. and Wilcox, W.R. (1998) Lys650Met Substitution in the Tyrosine Kinase Domain of the Fibroblast Growth Factor Receptor Gene Causes Thanatophoric Dysplasia Type I. Mutations in Brief No. 199. Human Mutation, 12, 362-363.
[62]
Bodian, D.L., Chan, T.F., Poon, A., Schwarze, U., Yang, K., Byers, P.H., Kwok, P.Y. and Klein, T.E. (2009) Mutation and Polymorphism Spectrum in Osteogenesis Imperfecta Type II: Implications for Genotype-Phenotype Relationships. Human Molecular Genetics, 18, 463-471. http://dx.doi.org/10.1093/hmg/ddn374
[63]
Grigelioniene, G., Geiberger, S., Papadogiannakis, N., Mokitie, O., Nishimura, G., Nordgren, A. and Conner, P. (2013) The Phenotype range of Achondrogenesis 1A. American Journal of Medical Genetics Part A, 161A, 2554-2558.
[64]
Nagendran, S., Richards, A.J., McNinch, A., Sandford, R.N. and Snead, M.P. (2012) Somatic Mosaicism and the Phenotypic Expression of COL2A1 Mutations. American Journal of Medical Genetics Part A, 158A, 1204-1207.
http://dx.doi.org/10.1002/ajmg.a.35303
[65]
Xu, B., Lu, S. and Gerton, J.L. (2014) Roberts Syndrome: A Deficit in Acetylated Cohesin Leads to Nucleolar Dysfunction. Rare Diseases, 2, e27743. http://dx.doi.org/10.4161/rdis.27743
[66]
Rodriguez, E., Bober, M.B., Davey, L., Zamora, A., Li Puma, A.B., Chidekel, A. and Shaffer, T.H. (2012) Respiratory Mechanics in an Infant with Perinatal Lethal Hypophosphatasia Treated with Human Recombinant Enzyme Replacement Therapy. Pediatric Pulmonology, 47, 917-922. http://dx.doi.org/10.1002/ppul.22527
[67]
Grody, W.W., Thompson, B.H. and Hudgins, L. (2013) Whole-Exome/Genome Sequencing and Genomics. Pediatrics, 132, S211-S215. http://dx.doi.org/10.1542/peds.2013-1032E
[68]
Davies, J., Chazen, E. and Nance, W.E. (1971) Symmelia in One of Monozygotic Twin. Teratology, 4, 367-378.
http://dx.doi.org/10.1002/tera.1420040312
[69]
Young, I.D., O’Reilly, K.M. and Kendall, C.H. (1986) Etiological Heterogeneity in Sirenomelia. Fetal & Pediatric Pathology, 5, 31-43. http://dx.doi.org/10.3109/15513818609068846
[70]
Stevenson, R.E., Jones, K.L., Phelan, M.C., Jones, M.C., Barr, M. and Clericuzio, C. (1986) Vascular Steal: The Pathogenetic Mechanism Producing Sirenomelia and Associated Defects of the Viscera and Soft Tissues. Pediatrics, 78, 451-457.
[71]
Talamo, T.S., Macpherson, T.A. and Dominguez, R. (1982) Sirenomelia: Angiographic Demonstration of Vascular Anomalies. Archives of Pathology & Laboratory Medicine, 106, 347-348.
[72]
Schinzel, A.A.G.L., Smith, D.W. and Miller, J.R. (1979) Monozygotic Twinning and Structural Defects. Journal of Pediatrics, 95, 921-930. http://dx.doi.org/10.1016/S0022-3476(79)80278-4
[73]
Perez-Aytes, A., Montero, L., Gomez, J. and Paya, A. (1997) Single Aberrant Umbilical Artery in a Fetus with Severe Caudal Defects: Sirenomelia or Caudal Dysgenesis. American Journal of Medical Genetics, 69, 409-412.
http://dx.doi.org/10.1002/(SICI)1096-8628(19970414)69:4<409::AID-AJMG14>3.0.CO;2-R
[74]
Russell, U., Weaver, D.D. and Bull, M.J. (1981) The Axial Mesoderm Dysplasia Spectrum. Pediatrics, 67, 176-182.
[75]
Stewart, F.J., Nevin, N.C. and Brown, S. (1993) Axial Mesodermal Dysplasia Spectrum. American Journal of Medical Genetics, 45, 426-429. http://dx.doi.org/10.1002/ajmg.1320450405
[76]
Haldar, A., Sharma, A.K. and Agarwal, S.S. (1994) OEIS Complex with Cranio-Facial anomalies: Defect of Blastogenesis? American Journal of Medical Genetics, 53, 21-23. http://dx.doi.org/10.1002/ajmg.1320530105
Carey, J.C., Greenbarn, B. and Hall, B.D. (1978) The OEIS Complex (Omphalocele, Exstrophy, Imperforate Anus, Spinal Defects). Alan R. Liss, Inc., New York, for the National Foundation-March of Dimes. BD: OAS, 14 (6B), 253-263.
[79]
Optiz, J.M. (1993) Blastogenesis and the “Primary Field” in Human Development. Alan R. Liss, Inc., New York, for the National Foundation-March of Dines. BD: OAS, 29, 3-37.
Aggarwal, S. and Phadke, S.R. (2013) Recurrence of Urorectal Septum Malformation Sequence Spectrum Anomalies in Siblings: Time to Explore the Genetics. American Journal of Medical Genetics Part A, 161, 1718-1721.
http://dx.doi.org/10.1002/ajmg.a.35950
[82]
Pauli, R.M. (1994) Lower Mesodermal Defects: A Common Cause of Fetal and Early Neonatal Death. American Journal of Medical Genetics, 50, 154-172. http://dx.doi.org/10.1002/ajmg.1320500206
[83]
Du Plessis, J.P., Winship, W.S. and Kirstein, J.D. (1974) Fetus in Fetu and Teratoma. A Case Report and Review. South African Medical Journal, 48, 2119-2122.
[84]
Spencer, R. (2001) Parasitic Conjoined Twins: External, Internal (Fetuses in Fetu and Teratomas), and Detached (Acardiacs). Clinical Anatomy, 14, 428-444. http://dx.doi.org/10.1002/ca.1079
[85]
Landy, H.J., Weiner, S., Corso, S.L., Batzer, F.R. and Bolognese, R.J. (1986) The “Vanishing Twin”: Ultrasonographic Assessment of Fetal Disappearance in the First Trimester. American Journal of Obstetrics & Gynecology, 155, 14-19.
http://dx.doi.org/10.1016/0002-9378(86)90068-2
[86]
Al-Dosari, M.S., Al-Owain, M., Tulbah, M., Kurdi, W., Adly, N., Al-Hemidan, A., Masoodi, T.A., Albash, B. and Alkuray, F.S. (2013) Mutation in MPDZ Causes Severe Congenital Hydrocephalus. Journal of Medical Genetics, 50, 54-58. http://dx.doi.org/10.1136/jmedgenet-2012-101294
[87]
Manchester, D.K., Pretorius, D.H., Avery, C., Manco-Johnson, M.L., Wiggins, J. and Meier, P.R. (1988) Accuracy of Ultrasound Diagnosis in Pregnancies Complicated by Suspected Fetal Anomalies. Prenatal Diagnosis, 8, 109-117.
http://dx.doi.org/10.1002/pd.1970080205
[88]
Weston, M.J., Porter, H.J., Andrews, H.S. and Berry, P.J. (1993) Correlation of Antenatal Ultrasonography and Pathological Examinations in 153 Malformed Fetuses. Journal of Clinical Ultrasound, 21, 387-392.
http://dx.doi.org/10.1002/jcu.1870210604
[89]
Clayton-Smith, J., Farndon, P.A., McKeown, C. and Donnai, D. (1990) Examination of Fetuses after Induced Abortion for Foetal Abnormality. BMJ, 300, 295-297. http://dx.doi.org/10.1136/bmj.300.6720.295
[90]
Sharma, A.K., Haldar, A. and Phadke, S.R. (1994) Postmortem Radiography of Perinatal Deaths: An Aid to Genetic Counseling. Indian Pediatrics, 31, 702-706.
[91]
Halder, A. and Park, Y.K. (1999) Identification of the Appropriate Tissue from Formalin Fixed Perinatal Autopsy Material for Chromosomal Ploidy Detection by Interphase FISH. Indian Journal of Medical Research, 110, 102-106.
[92]
Halder, A. and Fauzdar, A. (2006) Extreme Skewing of Sex Ratio and Low Aneuploidy in Recurrent Early Missed Abortion. Indian Journal of Medical Research, 124, 41-50.
