Prenatal Diagnosis Publications

The following list of prenatal diagnosis and fetal treatment publications will help you in your search for more information about evaluating and diagnosing birth defects. Most are written by members of the Center for Fetal Diagnosis and Treatment team at The Children's Hospital of Philadelphia. If you are unable to obtain any of these publications, please let us know and we will send copies to you.

Journal Articles

2014

Aguirre-Pascual E, Epelman M, Johnson AM, Chauvin NA, Coleman BG, Victoria T. Prenatal MRI evaluation of limb-body wall complex. Pediatr Radiol. 2014 Nov;44(11):1412-20. Epub 2014 Jun 14. Read the abstract.

2002

Nwebube NI, Lockitch G, Halstead C, Johnson J, Wilson RD. Alpha-Fetoprotein values in amniotic fluid obtained during early amniocentesis (11-13 weeks). Fetal Diagnosis and Therapy 17:25-28, 2002.

Wilson RD. Prenatal evaluation for fetal surgery. Curr Opin Obstet Gynecol 14:187-193, 2002.

Steed HL, Tomkins DJ, Wilson RD, Okun N, Mayes DC. Maternal cell contamination of amniotic fluid samples obtained by open needle versus trocar technique of amniocentesis. JOGC 24(3);233-236, 2002.

Snijders, Thom EA, Zachary JM, Platt LD, Greene N, Jackson LG, Sabbagha RE, Filkins K, Silver K, Hogge WA, Ginsberg NA, Morgan, Chilis P, Hill LM, Hecker J, Wapner RJ, The Bun Study Group. First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol 19:353-359, 2002.

Wilson R.D. Letters to the editor. Canadian guidelines for prenatal diagnosis. JOGC 24:390, 2002.

2000

Pameijer CR, Hubbard AM, Coleman B, Flake AW: Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature. J Pediatr Surg 35:745-747, 2000. 

1997

Hallak M, O'Brien JE, Isada NB, Johnson MP, Drugan A, Evans MI: Thyroid function does not alter maternal serum alpha-fetoprotein interpretation. Journal of Maternal Fetal Medicine 6:115-117, 1997.

O'Brien JE, Dvorin E, Drugan A, Johnson MP, Yaron Y, Evans MI. Ethnic and racial specific variation in multiple marker biochemical screening (MMBS): HCG and uE3 also require separate databases. Obstetrics and Gynecology 89(3):355-8, 1997.

Evans MI, Duquette DA, Rinaldo P, Bawle E, Rosenblatt DS, Whitty J, Quintero RA, Johnson MP. Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA); Titration of treatment dose to serum and urine MMA. Fetal Diagnosis and Therapy 12(1):21-23, 1997.

Qureshi F, Jacques SM, Johnson MP, Hume RF, Kramer RL, Yaron Y, Evans MI. Trisomy 21 placentas: Histopathological and immunohistochemical findings using proliferating cell nuclear antigen (PCNA) Fetal Diagnosis and Therapy 12(4), 210-215, 1997.

Chik L, Spencer K, Johnson MP, Ayoub M, Krivchenia EL, Dombrowski MP, Evans MI. Precise Gaussian distribution functions of maternal serum AFP and free bHCG for trisomy 21 (T21) biochemical screening. American Journal of Obstetrics and Gynecology 177(4)882-886, 1997.

O'Brien JE, Dvorin E, Yaron Y, Ayoub M, Johnson MP, Hume RF, Evans MI. Differential increases in AFP, HCG, and uE3 in twin pregnancies: Impact upon attempts to quantify Down syndrome screening calculations. Am J Med Genet. 1997 Dec 12;73(2):109-12.

Malone FD, Crombleholme TM, Nores J, Athanassiou A, D'Alton ME: Pitfalls of the 'double bubble' sign: A case of congenital duodenal duplication. Fetal Diagn Ther 12: 298-300, 1997.

1996

Drugan A, Johnson MP, Reichler A, Hume RF, Bronshtein M, Itskovicz-Eldor J, Evans MI. Increased amniotic fluid alpha-fetoprotein in patients with fetal nuchal edema. Fetal Diagnosis & Therapy 11: 6-8, 1996.

Hume RF, Drugan A, Reichler A, Lampinen J, Johnson MP, Evans MI. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 61:171-173, 1996

Drugan A, O'Brien JE, Dvorin E, Krivchenia E, Johnson MP, Sokol RJ, Evans MI. Multiple marker screening in multifetal gestations: prediction of adverse pregnancy outcomes. Fetal Diagnosis & Therapy 11: 16-19, 1996.

Dombrowski MP, Isada NB, Johnson MP, Berry SM. Modified stylet technique for tenting of amniotic membranes. Obstet Gynecol 87:455-456, 1996.

Evans MI, O'Brien JE, Dvorin E, Krivchenia EL, Drugan A, Hume RF, Johnson MP. Similarity of insulin dependent diabetics' (IDD) and non-insulin dependent diabetics' (NIDD) levels of beta-hCG and unconjugated estriol with controls: no need to adjust as with AFP. J Soc Gynecol Invest 3(1): 23-26, 1996.

Evans MI, Chik L, O'Brien JE, Dvorin E, Johnson MP, Krivchenia E, Sokol RJ. Logistic regression generated probability estimates for Trisomy 21 outcomes from serum AFP and beta-hCG: simplification with increased specificity. Journal of Maternal Fetal Medicine 5:1-6, 1996.

Evans MI, Hume RF, Johnson MP, Treadwell MC, Krivchenia E, Zador IE, Sokol RJ. Integration of genetics and ultrasound in prenatal diagnosis: just looking is not enough. Am J Obstet Gynecol 174(6):1926-30, 1996.

Drugan A, Johnson MP,Reichler A, Hume RF, Itskovicz-Eldor J, Evans MI. Second trimester minor ultrasound anomalies: Impact on the risk of aneuploidy associated with advanced maternal age. Obstetrics and Gynecology 88(2):203-206, 1996.

Drugan A, Reichler A, Bronstein M, Johnson MP, Sokol RJ, Ebrahim SAD, Evans MI. Abnormal biochemical serum screening versus second trimester ultrasound-detected minor anomalies are predictors of aneuploidy in low risk patients. Fetal Diagnosis & Therapy 11:301-305, 1996.

Brown CL, Colden KA, Hume RF, Johnson MP, Treadwell MC, Drugan A, Lampinen J, Evans MI. Positive or faint amniotic fluid acetylcholinesterase band with normal ultrasound. American Journal of Obstetrics and Gynecology 175:1000-1003, 1996.

Landwehr JB, Johnson MP, Hume RF, Sokol RJ, Yaron Y, Evans MI. Abnormal nuchal findings on screening ultrasound: Aneuploidy stratification based on ultrasound anomaly and gestational age at detection. American Journal of Obstetrics and Gynecology 175:995-999, 1996.

1995

Johnson MP, Michaelson JE, Barr M Jr, Treadwell MC, Hume RF Jr, Dombrowski MP, Johnson A, Bichalski J, Evans MI. Combining humerus and femur length for improved sonographic identification of pregnancies at increased risk for trisomy 21. Am J Obstet Gynecol 172: 1129-1135, 1995.

Qureshi F, Jacques SM, Johnson SF, Johnson MP, Evans MI, Yang SS: Histopathology of fetal diastrophic dysplasia. Am J Med Genet 56: 300-303, 1995.

Evans MI, Krivchenia EL, Johnson MP, Quintero R, King M, Pegoraro E, Hoffman EP. In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. Fetal Diagnosis and Therapy 10: 71-75, 1995.

Evans MI, Chik L, O'Brien JE, Chen B, Dvorin E, Ayoub M, Krivchenia EL, Ager JW, Johnson MP, Sokol RJ. MOMs and DADs: improved specificity and cost effectiveness of biochemical screening for aneuploidy with DADs. Am J Obstet Gynecol 172: 1138-1147, 1995.

Hume Jr. RF, Drugan A, Ebrahim SAD, Johnson MP, Isada NB, Reichler A, Evans MI: The role of ultrasonography (US) in pregnancies with marker chromosome (MC) aneuploidy. Fetal Diagnosis & Therapy 10: 183-186, 1995.

Evans MI, Quintero RA, King M, Qureshi F, Johnson MP. Endoscopically assisted, ultrasound guided fetal muscle biopsy. Fetal Diagnosis & Therapy 10: 167-172, 1995.

Hume RF, Kilmer-Ernst P, Wolfe HM, Ebrahim SAD, Treadwell MC, Johnson MP, Evans MI. Prenatal cytogenetic abnormalities: correlations of structural rearrangements and ultrasound detected fetal anomalies. Am J Obstet Gynecol 173(4):1334-1336, 1995.

Qureshi F, Jacques SM, Johnson SF, Johnson MP, Evans MI, Yang SS. Diastrophic dysplasia and atelosteogenesis II: different manifestations of a common chondrodysplasia? Am J Med Genet 56:300, 1995.

Dirkes K, Crombleholme TM, Craigo SD, Latchaw LA, Jacir NN, Harris BH, D'Alton ME: The natural history of meconium peritonitis diagnosed in utero. J Pediatr Surg 30: 979-982, 1995.

Stringer MD, McKenna KM, Goldstein RB, Filly RA, Adzick NS, Harrison MR: Prenatal diagnosis of esophageal atresia. J Pediatr Surg 30:1258-1263, 1995.

1994

Evans MI, Johnson MP, Holzgreve W: Early amniocentesis: what exactly does that mean? J Reprod Med 39(2):77-78,1994.

Dombrowski MP, Berry SM, Johnson MP, Saleh AA, Sokol RJ: Birth weight/length ratio, ponderal index, placental weight, and birth weight/placental ratios in a large population. Arch Pediat Adol Med 148: 508-512, 1994.

Johnson MP, Michaelson J, Barr M Jr, Treadwell MC, Isada NB, Dombrowski MP, Pryde PG, Addis J, Evans MI: Sonographic screening for trisomy 21: fetal humerus: foot length ratio, a useful new marker. Fetal Diagnosis and Therapy 9(2): 130-38,1994.

Isada NB, Johnson MP, Pryde PG, Hallak M, Evans MI: Technical aspects of transcervical chorionic villus sampling. Fetal Diagnosis and Therapy 9(1): 19-28, 1994.

Hallak M, Pryde PG, Qureshi F, Johnson MP, Jacques SM, Evans MI: Constriction of the umbilical cord: fetal death following transplacental amniocentesis. J Reprod Med 39(7): 561-565, 1994.

Evans MI, Hoffman EP, Cadrin C, Johnson MP, Quintero R, Golbus MS. In utero fetal muscle biopsy: collaborative experience with varied indications. Obstet Gynecol. 1994 Dec;84(6):913-7.

Evans MI, Ebrahim SAD, Berry SM, Holzgreve W, Isada NB, Quintero R, Johnson MP. Fluorescent in situ hybridization utilization for high risk prenatal diagnosis: a trade-off among speed, expense, and inherent limitations of chromosome specific probes. Am J Obstet Gynecol 171: 1055-1057, 1994.

Reichler A, Hume Jr. RF, Drugan A, Bardicef M, Isada NB, Johnson MP, Evans MI: Risk of anomalies as a function of level of elevated maternal serum alpha-fetoprotein. Am J Obstet Gynecol. 1994 Oct;171(4):1052-5.

Saleh AA, Pryde PG, Isada NB, Johnson MP, Evans MI, Johnston JM. Platelet activating factor - acytylhydrolase (PAF-AH) activity following chorionic villus sampling and amniocentesis. Journal of the Society for Gynecologic Investigation 1(1):135-137, 1994.

Isada NB, Hume RF Jr, Reichler A, Johnson MP, Klinger KW, Evans MI, Ward BE: Fluorescent in situ hybridization (FISH) and second trimester sonographic anomalies: uses and limitations. Fetal Diagnosis & Therapy 9:367-70, 1994

1993

Evans MI, Pryde PG, Evans WJ, Johnson MP: The choices women make about prenatal diagnosis. Fetal Diagnosis and Therapy 8 (suppl 1): 70-80, 1993.

Evans MI, Farrell SA, Greb A, Ray P, Johnson MP, Hoffman E: In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk". Am J Med Genet 46: 309-312, 1993.

Saleh AA, Ozawa T, Isada NB, Johnson MP, Dombrowski MP, Evans MI, Treadwell MB, Mammen EF: Amniotic fluid platelet factor 4 and beta-thromboglobulin as markers of structural abnormalities. Fetal Diagnosis and Therapy 8(3): 175-177, 1993.

Saleh AA, Ozawa T, Dombrowski MP, Isada NB, Johnson MP, Evans MI, Bottoms SF, Mammen EF: Amniotic fluid platelet factor and beta-thromboglobulin. Fetal Diagnosis and Therapy 8(3): 165-167, 1993.

Johnson MP, Barr M Jr, Treadwell MC, Michaelson J, Isada NB, Pryde PG, Dombrowski MP, Cotton DB, Evans MI: Fetal leg and femur:foot length ratio: A marker for trisomy 21. Am J Obstet Gynecol 169(3): 557-563, 1993.

Evans MI, Isada NB, Krivchenia EL, Uhlmann WR, Johnson MP: Management of the unexpectedly detected fetal abnormality. The Female Patient 18(10): 72-77, 1993.

O'Brien JE, Drugan A, Chervenak FA, Johnson MP, Isada NB, Hallak M, Evans MI: Matenal serum alpha-fetoprotein screening: the need to use race specific medians in Asians. Fetal Diagnosis and Therapy 8(6): 367-370, 1993.

Johnson MP, Childs MD, Isada NB, Koppitch III GC, Evans MI: Trisomy 16 CVS and viable pregnancy: Lethal aneuploidy compartmentalized to the trophoblast in two otherwise normal pregnancies. Fetal Diagnosis and Therapy 8(2): 102-109, 1993.

Qureshi F, Jacques SM, Evans MI, Johnson MP, Yang SS: Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-Van Ceveld Syndrome). Am J Med Genet 45: 471-476, 1993.

1992

Evans MI, Klinger KW, Isada NB, Shook D, Holzgreve W, McGuire N, Johnson MP: Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: an adjunct to long term culture and karyotype. Am J Obstet Gynecol 167: 1522-1525, 1992.

Hallak M, Johnson MP, Pryde PG, Isada NB, Zador IE, Evans MI: Rate of transabdominal chorionic villus sampling does not have to increase as new physicians learn the procedure: utilization of transabdominal versus transcervical approach. Obstet Gynecol 80: 349-352, 1992.

Duncan BW, Eraklis AE, Adzick NS: Retroperitoneal alimentary tract duplications detected in utero. J Pediatr Surg 27:1231-1233, 1992.

1991

Evans MI, Johnson MP, Koppitch FC, Thompson KE, Sokol RJ, Drugan A: Transabdominal advanced gestation (TAG) CVS: A faster alternative to PUBS for rapid karyotyping. J Reprod Med 36(6): 416-418,1991.

Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH, Hoffman EP: In utero fetal muscle biopsy for the diagnosis of Duchenne Muscular Dystrophy. Am J Obstet Gynecol 165: 728-732, 1991.

Isada NB, Parr DP, Johnson MP, Straus SE, Holzgreve W, Qureshi F, Evans MI: In utero diagnosis of congenital varicella-zoster virus (VZV) infection by chorionic villus sampling (CVS) using polymerase chain reaction (PCR). Am J Obstet Gynecol 165: 1727, 1991.

1989

Langer JC, Adzick NS, Filly RA, Golbus MS, Harrison MR: Gastrointestinal obstruction in the fetus. Archives of Surgery 124:1183-1187, 1989.

Reviewed on September 30, 2013