1) Ramsy, BW. Management of pulmonary disease in patient with cystic fibrosis. N Eng J Med. 335, 1996, 179.
2) Center for Disease Control. Malformation Surveillance. Annual Report. 1986.
3) Bonnett, RL., Steinhause, KA., Uhrich, SB. et al. Recommendation for standardized human pedigree nomenclature. Am J Hum Genet. 56, 1995, 745-52.
5) Marden, PM., Smith, DW., McDonald, MJ. Congenital anomalies in the newborn infants, including minor variations. J Pediatr. 64, 1964, 357.
7) Adams, MS., Neel, JV. Children of incest. Pediatrics. 40, 1967, 55.
8) Bazhenova, MD., Kozlova, SI., Altshuler, BA. et al. Analysis of the relation of the frequency of new gene mutations for Mendelian diseases to parental age. Genetika. 20, 1984, 1726.
9) Nadler, HL., Burton, BK. "Genetics". Fetal and Maternal Medicine. Quilligan, EJ., Kretchmer, N. eds. New York, John Wiley & Sons. 1980, 59-107.
10) NICHD National Registry for Amniocentesis Study Group : Midtrimester amniocentesis for prenatal diagnosis. JAMA. 236, 1976, 1471.
11) American College of Obstetricians and Gynecologists : Invasive prenatal testing for aneuploidy. Practice Bulletin. Number 88, 2007.
12) Wenstrom, KD., Andrews, WW., Tamura, T., DuBard, MB., Johnston, KE., Hemstreet, GP. Elevated amniotic fluid interleukin-6 levels at genetic amniocentesis predict subsequent pregnancy loss. Am J Obstet Gynecol. 175(4 Pt 1), 1996, 830.
13) Phillip, J., Silver, RK., Wilson, RD., Thom, EA., Zachary, JM., Mohide, P., Mahoney, MJ., Simpson, JL., Platt, LD., Pergament, E. Late first-trimester invasive prenatal diagnosis : Result of an international randomized trial. Obstet Gynecol. 103, 2004, 1164.
14) Nicolides, K., Brizot, ML., Patel, F. et al. Comparison of chorionic villous sampling and amniocentesis for fetal karyotyping at 10-13 weeks? gestation. Lancet. 344, 1994, 439.
16) Nicolaides, KH., Brizot, ML., Patel, F. et al. Comparison of chorionic villous sampling and early amniocentesis for karyotyping in 1,492 sigleton pregnancies. Fetal Diagn Ther. 11, 1996, 9.
17) Alfirevic, Z. Early amniocentesis versus transabdominal chorionic villous sampling for prenatal diagnosis. Cochrane Database Syst Rev.(2), 2000, CD000077.
18) Kuliev, A., Jackson, L., Froster, U., Brambati, Simpson JL, Verlinsky Y, Ginsberg N, Smidt-Jensen S, Zakut H. Chorionic villus sampling safty. Am J Obstet Gynecol. 174, 1996, 807.
23) Marby, CC., Denniston, JC., Nelson, TL. et al. Maternal phenylketonuria : Cause of mental retardation in children without metabolic defect. N Eng J Med. 269, 1963, 1404-8.
24) Marby, CC., Denniston, JC., Coldwell, JG. Mental retardation in children of phenylketonuric mothers. N Eng J Med. 275, 1966, 1331-6.
27) Linke, RR., Levy, HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Eng J Med. 303, 1980, 1202.
31) Michals-Matalon, K., Platt, LD., Acosta-P, P. et al. Nutrient intake and congenital heart defects in maternal phenylketonuria. Am J Obstet Gynecol. 182, 2002, 441-4.
34) Weisbren, SE., Hamilton, BD,, St. James, PJ., Shiloh, S., Levy, H., Matalon, R. Psychosocial factors in maternal phenylketonuria : women's adherence to medical recommendations. Am J Public Health. 85, 1995, 1636.
37) Owada, M., Abe, M., Ono, M. et al. Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein source. J Inherited Metabolic Disease. 11(3), 1988, 341-4.
41) Mudd, SH., Levy, HL. "Disorders of transsulfuration". The Metabolic Basis of Inherited Disease. 5th ed. Stanbury, JB., Wyngaarden, JB., Fredrickson, DS. et al. eds. New York, McGraw-Hill, 1983, 522-9.
43) Rosen, SB., Sturk, A. Activated protein C resistance-a major risk factor for thrombosis. Eur J Clin Chem Clin Biochem. 35, 1997, 501-16.
44) Levy, HL. Reproductive effects of maternal metabolic disorders : Implications for pediatrics and obstetrics. Turk J Pediatr 38, 1996, 335-44.
48) McKusick, VA., Hall, JG., Char, F. "The clinical and genetic characteristics of homocystinuria". Inherited Disorders of Sulphur Metabolism. Carson, NAJ., Raine, DN. eds. Edinburgh,Churchill-Livingstone, 1971, 179-203.
50) Lamon, JM., Lenke, RR., Levy, HL. et al. "Selected metabolic diseases". Genetic Diseases in Pregnancy : Maternal Effects and Fetal Outcome. Schulman, JD., Simpson, JL. eds. New York,Academic Press, 1981, 1-55.
51) Mudd, SH., Skovby, F., Levy, HL. The natural : History of homocystinuria due4 to cystathionine beta synthase deficiency. Am J Hum Genet. 37, 1985, 1-31.
53) Kurcynski, TW., Muir, WA., Fleisher, LD. et al. Maternal homocystinuria : Studies of an untreated mother and fetus. Arch Dis Child. 55, 1980, 721-3.
55) Van Sprang, FJ. "General discussion on the treatment of homocystinuria". Inherited Disorders of Sulphur Metabolism. Carson, NAJ., Raine, DN. eds. London and New York, Churchill-Livingstone, 1971.
58) Brady, RO. "Glucosyl ceramide lipidosis : Gaucher's disease". The Metabolic Basis of Inherited Disease. 5th ed. Stanbury, JB., Wyngaarden, JB., Fredrickson, DS. et al. eds.New York, McGraw-Hill Book Company, 1982, 688.
60) Clarkson, CP., Magann, EF., Diddique, SA. et al. Hematological complications of Gaucher's disease in pregnancy. Mil Med. 163, 1998, 499-501.
61) Groen, J. The hereditary mechanism of Gaucher's disease. Blood. 3, 1948, 1238.
63) Hsia, DY., Naylor, J., Bingler, A. "The genetic mechanism of Gaucher's disease". Cerebral Sphingolipidoses. Arnoson, SM., Volk, B. eds. New York, Academic Press, 1962.
64) Ayhan, A., Tuncer, ZS., Simsek, H. Gaucher's disease and pregnancy. Eur J Obstet Gynecol Reprod Biol. 66, 1996, 69-70.
68) Den Hollonader, NS., Kleijer, WJ., Schoonderwladt, EM. et al. Utero diagnosis of mucopolysaccharidosis type II in a fetus with an enlarged nuchal translucency. Ultrasound Obstet Gynecol. 16, 2000, 87-90.
71) Muller, R., Giessmann, U. Gaucher's disease and pregnancy : a case report. Zentralbl Gynakol. 109(23), 1987, 1453-6.
74) Toaf, R., Toaf, ME., Peyser, MR. et al. Obstet Gynecol Surv. 32, 1977, 497-507.
77) Walshe, JM. Pregnancy in Wilson's disease. Quart J Med. 46, 1977, 73-83.
78) Marecek, Z., Graf, M. N Engl J Med. 1976, 841-2.
81) Mjolnerod, OK., Dommerud, SA., Rasmussen, K. et al. Lancet. 1, 1971, 673-5.
82) Solomon, L., Abrams, G., Dinner, M. et al. Neonatal abnormalities associated with d-penicillamine treatment during pregnancy. N Eng J Med. 296, 1977, 54-5.
83) Ostensen, M., Ramsey-Goldman, R. Treatment of inflammatory rheumatic disorders in pregnancy : What are the safest treatment options? Drug Saf. 19, 1998, 389-410.
85) Briggs, GG., Freeman-Yafe, ST. Drugs during pregnancy and lactation. Maryland, USA,Williams & Wilkins, 1990.
91) Fredrickson, DS., Goldstein, JL., Bown, MS. The Metabolic Basis of Inherited Disease. Stanbury, JB., Wyngaarden, JB., Fredrickson, DS. eds. New York, McGraw-Hill, 1978, 604-65.
93) Fabian, E., Stork, A., Kucerova, L. et al. Am J Obstet Gynecol. 1978, 904-7.
94) Bremmer, WF. Third JLHC. Am J Med. 64, 1978, 912-3.
95) Statzer, DE. Obstet Gynecol. 17, 1961, 587-92.
96) Ohomoto, K., Neishi, Y., Miyake, I. et al. Severe acute pancreatitis associated with hyperlipidemia : Report of two cases and review of the literature in Japan. Hepatogastroenterology. 46, 1999, 2980-90.
97) Tsang, RC., Glueck, CJ. Perinatal cholesterol metabolism. Clin Peinatol. 2, 1975, 275-94.
98) Beigel, Y., Hod, M., Fuchs, J. et al. Pregnancy in a homozygous familial hypercholesterolemic patient treated with long-term plasma exchange. Am J Obstet Gynecol. 162, 1990, 77-8.
99) Tschudy, DP., Lamon, JM. Metabolic Control and Disease. 8th ed. Bondy, PK., Rosenberg, LE. eds. Philadelphia, Pennsylvania. Saunders, 1980, 993-1008.
102) Neilson, DR., Neilson, RP. West J Surg Obstet Gynecol. 66, 1958, 133-49.
103) Seekler, SG., Rovinsky, JJ. Medical, Surgical and Gynecological Complications of Pregnancy. Guttmacher, AF., Rovinsky, JJ. eds. Baltimore, Maryland,Williams & Wilkins, 1965, 782-90.
109) Bewley, AP., Keefe, M., White, JE. Erythropoietic protoporphyria improving during pregnancy. Br J Dermatol. 139, 1988, 145-7.
111) Pho-Fitzpatric, MB. Human protoporphyria : Reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol. 36, 1997, 40-3.
113) Brodie, MJ., Moore, MR., Thompson, GG. et al. Br J Obstet Gynaecol. 84, 1977, 726-31.
116) Olund, A. Acute intermittent porphyria complicated by pregnancy. Clin Exp Obstet Gynecol. 15, 1988, 168-9.
119) Kench, JD., Langley, FA., Wilkinson, JF. Quart J Med. 22, 953, 285-94.
122) Shenhay, S., Gemer, O., Sassoon, E. et al. Acute intermittent porphyria precipitated by hyperemesis and metoclopramide treatment in pregnancy. Acta Obstet Gynecol Scand. 76, 1977, 484-5.
126) Sassa, S., Kapas, A. Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria. N Eng J Med. 321, 1989, 192-3.
127) Isenschmid, M., Konig, C., Fassli, C. et al. Acute intermittent porphyria in pregnancy : Glucose or hematin therapy. Schweiz Med Wochenschr. 122, 1992, 1741.
128) Burma, OJ., Van der Kamp, W., Barendswaard, EC.et al. Which factors influence age at onset and rate of progression in Huntington's disease? J Neurol Scien. 80, 1987, 229-306.
129) Reed, TE., Neel, JV. Hinginns chorancn2 selection and mutation. Am J Hum Genet. 11, 1959, 107.
132) Gardner-Medwin, D. J Med Genet. 7, 1970, 334-7.
142) Davis, HA. J Obstet Gynaecol, Br Emp. 65, 1958, 479.
143) Gardy, HH. Dystrophia myotonica in pregnancy. Obstet Gynecol. 21, 1963, 441.
145) Shore, RN., MacLachlan, TB. Pregnancy with myotonic dystrophy. Course, complications and management. Obstet Gynecol. 38, 1971, 448.
147) Verrijn, SAA., Husman, M., Van Straaten, HL. et al. Shake hands : Diagnosing a floppy infant-myotonic dystrophy and the congenital subtype : A difficult perinatal diagnosis. J Perinat Med. 28, 2000, 497-501.
149) Dunn, LJ., Dierker, LJ. Recurrent hydramnios in association with myotonia dystrophica. Obstet Gynecol. 42, 1973, 104.
150) Geifman-Holtzman, O., Fay, K. Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother : Case report and literature review. Am J Med Genet. 78, 1998, 250.
152) Rudnik, SS., Rohrig, D., Zerres, K. Increased risk for abnormal placentation in women affected by myotonic dystrophy. J Peinat Med. 26, 1998, 192-5.
153) Fox, GN., Gravett, MG. Neonatal myotonic dystrophy associated with prenatal ventriculomegaly : A case report. J Reprod Med. 31, 1986, 729-31.
154) Hillard, GD., Harris, RE., Gilstrap, LC. et al. South J Med. 70, 1977, 446-7.
156) Esplin, MS., Hallam, S., Farrington, PF. et al. Myotonic dystrophy is a significant cause of idiopathic polyhydramnios. Am J Obstet Gynecol. 179, 1988, 974-7.
157) 信永敏克. 先天性筋緊張性ジストロフィー症の出生前診断. 産婦人科治療. 80, 2000, 63.
159) Boyle, R. Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy. Anaesth Intensive Care. 27, 1999, 301-6.
161) Merrit, AD., Hanna, BL., Todd, CW. et al. The incidence and mode of inheritance of cystic fibrosis. J Lab Clin Med. 60, 1962, 998-9.
162) Bearn, AG., Danes, S. Cystic fibrosis. Genetic Determinants of Pulmonary Disease. Litwin, SD. ed. New York, Dekker, 1978, 75-92.
163) Fiel, SB. Pulmonary function during pregnancy in cystic fibrosis : Implications for counseling. Curr Opin Pulm Med. 2, 1996, 426-5.
165) Steinrud, JS., Winkel, S., Flensborg, EW. Screening for cystic fibrosis with chloride electrode. Dan Med Bull. 21, 1974, 251-5.
168) Di Sant' Agnese, PA., Davis, PB. Cystic fibrosis in adults. 75 cases and a review of 232 cases in the literature. Am J Med. 66, 1979, 121-32.
169) Siegel, B., Siegel, S. Pregnancy and delivery in a patient with cystic fibrosis of the pancreas. Report of a case. Obstet Gynecol. 16, 1960, 438-40.
170) National Survey Report. Problems in reproductive physiology and anatomy in young adults with cystic fibrosis. Louisiana, New Orleans, Cystic Fibrosis GAP Conference. 1975.
171) Edenborough, FP., Mackenzie, WE., Stableforth, DE. The outcome of 72 pregnancies in 55 women with cystic fibrosis in the United Kingdom 1977-1996. Br J Obstet Gynaecol. 107, 2000, 254-61.
172) Odengaard, I., Stray-Pederson, B., Hallberg, K. et al. Maternal and fetal morbidity in pregnancies of Norwegian and Swedish women with cystic fibrosis. Acta Obstet Gynaecol Scand. 81, 2002, 698.
173) ACOG. Technical bulletin. Pulmonary disease in pregnancy. Number 224, 1996.
174) Grand, RJ., Talamo, RC., Di Sant' Agnese, PA. et al. Pregnancy in cystic fibrosis of the pancreas. Am J Med Assoc. 195, 1966, 117-24.
175) Conteville, JE., Gray, DL., Langer, JC. Bowel abnormalities in the fetus-correlation of prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol. 175, 1996, 724.
178) Genetic testing for cystic fibrosis. National Institute of Health Consensus Developent Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med. 159, 1999, 1529.
180) American College of Obstetricians and Gynecologists Committee Opinion. No.325, 2007.
183) Novy, MJ., Tyler, JM., Schwachman, H. et al. Cystic fibrosis and pregnancy. Report of a case with a study of pulmonary function and arterial blood gases. Obstet Gynecol. 129, 1967, 463-4.
184) American College of Obstetricians and Gynecologists : Neural Tube Defects. Practice Bulletin. No.44, 2003.
185) EUROCAT Working Group. Prevelance of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980-1986. J Epidemiol Community Health. 45, 1991, 52-8.
186) 平山暁秀, 山田薫, 田中洋造, 平田直也, 山本雅司, 末盛毅, 百瀬均, 塩見努, 大園誠一郎, 平尾佳彦. 二分脊椎症における性機能の検討. 泌尿器科紀要. 41, 1995, 985-9.
187) Center for Disease Control and Prevention, Knowledge and use of folic acid by women of childbearing age-United States 1995-1998. MMWR. 48, 1999, 16.
190) 山本雅司, 安川元信, 吉井将人, 高橋省二, 夏目修, 百瀬均, 末盛毅, 山田薫, 塩見努. 間歇的導尿法にて尿路管理中の二分脊椎症例の検討. 泌尿器科紀要. 37, 1991, 117-21.
191) 山本雅司, 山田薫, 平田直也, 平山暁秀, 柏井浩希, 百瀬均, 夏目修, 末盛毅, 塩見努, 平尾佳彦, 岡島英五郎. 二分脊椎症に対する膀胱拡大術について. 日本小児泌尿器科学会雑誌. 4, 1996, 47-54.
192) Mann, WJ., Jones, DED. Pregnancy complicated by maternal neural tube defect and ileal conduit. A case report. J Reprod Med. 17, 1976, 339-41.
194) Sutheland, RS., Mevorach, RA., Baskin, LS., Kogan, BA. Spinal dysraphism in children: An overview and approach to prevent complications. Urology. 46, 1995, 294-304.
195) Rekate, HL. Comprehensive management of spina bifida. Barrow Neurological Institute. 185, 1991, 213.
196) Ellison, FE. Term pregnancy in a patient with meningomyelocele, uretero-ileostomy and partial paraparesis. Am J Obstet Gynecol. 123, 1975, 33-4.
197) Farine, D., Jackson, U., Portale, A., Baxi, L., Fox, HE. Pregnancy complicated by maternal spina bifida. J Reprod Med. 33, 1988, 323-6.
198) Agha, FP., Amendola, MA., Shirazi, KK., Amendola, BE., Chandler, WF. Abdominal complications of ventriculoperitoneal shunts with emphasis on the role of imaging methods. Surg Gynecol Obstet. 156, 1983, 473-8.
199) Reitberg, CCT., Linhout, D. Adult patients with spina bifida cystica : Genetic counseling pregnancy and delivery. Eur J Obstet Gynecol Reprod Biol. 52, 1993, 63-70.
201) Rietberg, CC.,, Lindhout, D. Adult patients with spina bifida cystica : genetic counseling, pregnancy and delivery. Eur J Obstet Gynecol Reprod Biol. 52, 1993. 63-70.
203) Hanakita, J., Suzuki, T., Yamamoto, Y., Kinuta, Y., Nishihara, K. Ventriculoperitoneal shunt malfunction during pregnancy. J Neurosurg. 63, 1985, 459-60.
204) Frohlich, EP., Russell, JM., vanGelderen, CJ. Pregnancy complicated by maternal hydrocephalus. South Afr Med J. 70, 1986, 358-60.
205) Houston, CS., Clein, LJ. Ventriculoperitoneal shunt malfunction in a pregnant patient with meningomyelocele. Can Med Assoc J. 141, 1989, 701-2.
206) Arata, M., Grover, S., Dunne, K., Bryan, D. Pregnancy outcome and complication in women with spina bifida. J Reprod Med. 45, 2000, 743-8.
207) Hayden, PW., Davenport, SL., Campbell MM. Adolescents with myelodysplasia : Impact of physical disability on emotional maturation. Pediatrics. 64, 1979, 53-9.
209) Lippman-Hand, A., Fraser, FC., Cushman Biddle, CJ. Indication for prenatal diagnosis in relatives of patients with neural tube defects. Obstet Gynecol. 51, 1978, 72-6.
212) Rumke, CL. De nauwkeurigheid van percentages : tabellen met betrouwbaarheidsintervallen. Ned Tijdschr Geneeskd. 47, 1976, 2052.
213) MRC Vitamin Study Research Group. Prevention of neural tube defect : results of the Medical Research Council Vitamin Study. Lancet. 338, 1991, 131-7.
214) American Academy of Pediatrics and American College of Obstetricians and Gynecologists : Guideline for Perinatal care, 6th ed. 2007.
217) Wynn, JS., Mellor, S., Morewood, GA. Pregnancy in patients with spina bifida cystica. Practitioner. 22, 1979, 543-6.
219) Broome, IJ. Spinal anaesthesia for caesarean section in a patient with spina bifida cystica. Anaesth Intensive Care. 17, 1989, 377-9.
222) Silverstein, E., Roadman, C., Byers, RH. et al. Hematologic problems in pregnancy. III. Glucose-6-phosphate dehydrogenase deficiency. J Reprod Med. 12, 1974, 153-8.
228) Van de Velde-Staquet, MF., Breynaert, R., Walbaum, R. et al. La descendance des meres trisomiques 21. J Genet Hum. 21, 1973, 187-206.
229) Scharrar, S., Stengel-Rutkowski, S., Rodewald-Rudescu, A. et al. Reproduction in a female patient with Down's syndrome. Hum Genet. 26, 1975, 207-14.
231) Boue, J., Boue, E., Lazar, P. Retrospective and prospective epidemiological studies of 1,500 karyotyped spontaneous human abortions. Teratology. 12, 1975, 11-26.
237) Barr, ML., Sergovich, FR., Carr, DM. et al. The triple-X female : An appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J. 101, 1969, 247-58.
239) Linden, MG., Bender, BG., Harmon, RJ. et al. 47, XXX : What is the prognosis? Pediatrics. 82, 1988, 619-30.
241) Nevi, G. A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X indibiduals. Am J Med Genet. 18, 1984, 357-64.
242) Meshede, D., Horst, J. Sex chromosomal anomalies in pregnancy conceived through intracytoplasmic sperm injection : A case for genetic counseling. Hum Reprod. 12, 1997, 1125.
243) Kadotani, T., Ohama, K., Makino, S. A case of 21-trisomic Down's syndrome from the triplo-X mother. Proc Jpn Acad. 46, 1970, 709-12.
244) Guzman-Toledano, R., Ayala, A., Zaratre, A. et al. Triple X female and Turner's Syndrome offspring. J Med Genet. 13, 1976, 516-7.
245) Baike, AG. XXY son of a possible XX-XXX mother. Lancet. 2, 1972, 100-1.
248) Ziska, J., Balicek, P., Nielsen, J. XXYY son of a triple-X mother. Human genetics. 26, 1975, 159-60.
249) Simpson, JL. Pregnancies in women with chromosomal abnormalities. Genetic Disease in Pregnancy. Schulman, JD., Simpson, JL. eds. New York, Academic Press, 1981, 439-71.
255) 大野道子, 前田徹, 船渡朋子ほか. 自然流産を反復する夫婦における細胞遺伝学的研究. 日本産科婦人科学雑誌. 41, 1989, 1387-93.
258) Jacobs, PA. Structural rearrangements of the chromosomes in man. Population Cytogenetics. Hook, EB., Porter, IM. eds. New York, Academic Press, 1977.
259) Barisic, I., Zergollern, L., Muzinic, D. et al. Risk estimates for balanced reciprocal translocation carriers-prenatal diagnosis experience. Clin Genet. 49, 1996, 145.
260) Shaffer, LG., Spikes, AS., Macha, M. et al. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report. J Reprod Med. 41, 1996, 367.
263) Hook, EB., Hamerton, JL. The frequency of chromosome abnormalities detected in consecutive newborn studiesdifferences between studies-Results by sex and severity of phenotypic involvement. Population Cytogenetics. Hook, EB., Pirterm, IH. eds. New York, Academic Press, 1977.
266) Simpson, JL. Pregnancies in women with chromosomal abnormalities. Genetic Disease in Pregnancy. Schulman, JD., Simpson, JL. eds. New York, Academic Press, 1981.