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世界核心医学期刊文摘（妇产科学分册） 2005年第12期1卷 13-14页

作者： wataganara t. Met.enbauer M. Pet.r I. D.W.Bianchi 朱晓明 Division of Genet.cs Departments of Pediatrics Obstetrics and Gynecology Tufts- New England Medical Center 750 Washington St Boston MA 02111 United States Dr.

Object.ve: Measurement.of cell- free fet.l (cff) DNA in mat.rnal plasma may have clinical applicat.on in prenat.l screening for fet.l Down syndrome and preeclampsia. Lit.le is known regarding t.e t.ssue of origin of t.ese fet.l-derived sequences. We t.st.d t.e hypot.esis t.at.if t.e placent. is t.e major cont.ibut.r of cff DNA, t.en an increased placent.l volume should be associat.d wit. higher mat.rnal plasma cff DNA levels. St.dy design: We enrolled 143 pregnant.women who underwent.first.t.imest.r placent.l volume measurement.using 3- dimensional ult.asonography. Cff DNA in mat.rnal plasma on t.e day of t.e scan was quant.fied by real-t.me polymerase chain react.on (PCR) amplificat.on of a Y- chromosome sequence. t.e associat.on bet.een measured placent.l volume and mat.rnal plasma cff DNA levels was analyzed along wit. relevant.clinical variables. Result.: t.e median (25t., 75t. percent.les) mat.rnal plasma cff DNA level was 16.9 genome equivalent. (GE)/mL (10.8, 28.7). Raw values were adjust.d for gest.t.onal age and mat.rnal body mass index. Result.: t.e median (25t., 75t. percent.les) placent.l volume was 53.2 mL (43.0, 64.7), and median placent.l quot.ent.(rat.o of placent.l volume t. fet.l crown-rump lengt.) was 1 mm2 (0.8, 1.1). Based on mult.variat. linear regression analyses, neit.er of t.e above placent.l measurement. showed a significant.associat.on wit. mat.rnal plasma cff DNA levels (P = .43 and .43, respect.vely). A modest.associat.on was found bet.een plasma cff DNA levels and gravidit. (P = .03). Conclusion: Our dat. did not.show a significant.associat.on bet.een eit.er t.e placent.l volume or placent.l quot.ent. and mat.rnal plasma cff DNA levels. We speculat. t.at.it.is t.e ext.nt.of placent.l apopt.sis t.at.primarily affect. t.e amount.of cff DNA released int. t.e mat.rnal circulat.on.

关键词：超声扫描技术 DNA 基因组当量妊娠早期先兆子痫顶臀长组织来源统计分析研究设计

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母体体重与妊娠中期母体循环中游离胎儿DNA水平负相关

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世界核心医学期刊文摘（妇产科学分册） 2005年第9期1卷 48-49页

作者： wataganara t. Pet.r I. Messerlian G.M. D.W. Bianchi 杨晓梅 Division of Genet.cs Department of Pediatrics Tufts-New England Medical Center 750 Washin gton Street Boston MA 02111 United States Dr.

OBJECt.VE: Clinical applicat.ons of t.e analysis of cellfree fet.l DNA in ma t. rnal plasma and serum are expanding. However, use of fet.l DNA during prenat.l s creening requires knowledge of variables t.at.might.affect.it. levels in t.e mat.ernal circulat.on. We conduct.d t.is st.dy t. est.mat. t.e effect.of select.d de mographic fact.rs on fet.l DNA levels in t.e first.and second t.imest.rs of preg nancy. MEt.ODS: We developed a dat.base t.at.included fet.l DNA levels and clini cal informat.on, such as mat.rnal age, et.nicit., weight. and smoking hist.ry. W e measured fet.l DNA levels in mat.rnal plasma and serum using real-t.me quant. t.t.ve polymerase chain react.on amplificat.on of a Y chromosome specific sequen ce. t.e fet.l DNA dat. from fresh first.t.imest.r plasma and previously frozen s econd t.imest.r serum samples were analyzed separat.ly. Fet.l DNA levels were ad just.d according t. gest.t.onal age and st.rage t.me and t.en analyzed in associ at.on wit. t.e demographic fact.rs. RESULt.: In t.e first.t.imest.r group, no si gnificant.associat.on bet.een mat.rnal age, weight. et.nic background, or smokin g and plasma fet.l DNA lev els was observed. In t.e second t.imest.r group, a significant.inverse correla t.on bet.een mat.rnal weight.and serum fet.l DNA level was demonst.at.d (r = -0 .26, P = .007). t.is was especially prominent.when t.e mot.ers weighed more t.an 170 lb (P = .001). Mat.rnal age, et.nicit., and smoking were not.significant.y associat.d wit. t.e second t.imest.r serum fet.l DNA levels. CONCLUSION: Fet.l D NA levels are affect.d by mat.rnal weight.in t.e second t.imest.r. A correct.on for t.is effect.may be needed in larger-scale st.dies or for fut.re clinical ap plicat.ons t.at.measure cell-free fet.l nucleic acids in mat.rnal circulat.on.

关键词：妊娠中期负相关 DNA 产前筛查妊娠早期血浆样本临床信息人口统计学储存时间联合分析

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In Ut.ro Bipolar Diat.ermy t. Salvage a Phenot.pically Normal Fet.s in 45,X/46,XY Het.rokaryot.pic Monochorionic t.ins

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Surgical Science 2012年第2期3卷 100-103页

作者： t.angsit.wataganara Poomporn Uschararat.anasopon Chayawat.Phat.hat.akorn Chanin Limwongse Sommai Viboonchart.Kat.ka Nawapun Division of Genet.cs Department of Medicine Faculty of Medicine Siriraj Hospital Bangkok Thailand Division of Mat.rnal-Fet.l Medicine Department of Obstetrics and Gynecology Faculty of Medicine Siriraj Hospital Bangkok Thailand Division of Mat.rnal-Fet.l Medicine Department of Obstetrics and Gynecology Faculty of Medicine Siriraj HospitalBangkok Thailand

Het.rokaryot.pic monozygot.c t.ins are rare. We report.a set.of monochorionic diamniot.c t.ins complicat.d wit. let.al malformat.ons and hydrops in one fet.s at.menst.ual age of 16 weeks’. Sonographic appearances and genet.c am-niocent.sis result.suggest.d for 45,X and 46,XY het.rokaryot.pic t.ins. Coexist.ng polyhydramnios found in t.e sac of severely malformed 45,X fet.s t.reat.ned miscarriage and premat.re delivery. t. salvage t.e phenot.pically normal male fet.s, t.e hydropic 45,X co-t.in was select.vely t.rminat.d by occlusion of it. umbilical cord wit. bipolar dia-t.ermy. Complet. cessat.on of funicular flow was achieved, result.ng in normalizat.on of t.t.l amniot.c fluid volume. A healt.y 2200-gram baby boy was born at.38 weeks’. His neurodevelopment.was int.ct.at.2 years of age. His physical examinat.on was significant.for slight.growt. delay (15 percent.les), wit. 6% of 45,X mosaicism found in his peripheral blood. Owing t. t.e rarit. of t.e cases, limit.d dat. is available regarding an opt.mal t.eat.ent.for het.rokaryot.pic monochorionic t.ins wit. discordant.let.al malformat.on. Int.aut.rine int.rvent.on may be offered should demise or permanent.disabilit.es are imminent.t. t.e apparent.y normal fet.s.

关键词： Fet.l Int.rvent.on Het.rokaryot.pia Monochorionic t.ins Bipolar Diat.ermy

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In Ut.ro Bipolar Diat.ermy t. Salvage a Phenot.pically Normal Fet.s in 45,X/46,XY Het.rokaryot.pic Monochorionic t.ins

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Surgical Science（外科学） 2012年第2期

作者： t.angsit.wataganara Poomporn Uschararat.anasopon Chayawat.Phat.hat.akorn Chanin Limwongse Sommai Viboonchart.Kat.ka Nawapun

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