Nuruddin Badruddin Mohammed ( Maternal and Foetal Medicine Unit, Department of Obstetrics & Gynaecology, Division of Women and Child Health, Aga Khan University Hospital, Karachi, Pakistan. )
The-Hung Bui ( The Karolinska Institute, Dept of Clinical Genetics Unit, & Centre for Foetal Medicine, Karolinska University Hospital, Stockholm, Sweden. )
June 2010, Volume 60, Issue 6
Editorial
Foetal medicine encompasses the assessment of foetal health, and the maintenance of foetal growth and wellbeing. It requires the expertise of a foetal medicine specialist and input from various specialists, including among others obstetricians, maternal medicine specialists, neonatologists, paediatric cardiologists, paediatric surgical specialists, geneticists and specialist nursing counselors. The foetus therefore is considered by the professionals and parents as a potential patient in her or his own right. Foetal medicine is the specialty that addresses this unborn patient.
The progress made in foetal medicine has been notable over the period of time. Innovation in prenatal screening in early first-trimester for aneuploidy foetuses and for prediction of preeclampsia has improved the detection rate to 95% and 80% with a false-positive rate of 2% and 10%, respectively.1 Recent developments in fluorescence in-situ hybridization or quantitative fluorescence PCR have led to rapid results within two-six hours of amniocentesis for trisomy 21.2 Pre-implantation genetic diagnosis is now a well established technique for early prenatal diagnosis of chromosomal abnormalities in in-vitro fertilization pregnancies and as an alternative method for prenatal diagnosis in those families known to be at increased risk of having a child with certain severe single gene disorders.3
Advance in imaging with introduction of foetal magnetic resonance imaging is considered useful in particular for assessment of central nervous system abnormalities. 4 Three- and four dimensional ultrasonography provides added information for the analysis of skeletal anomalies, facial malformations and assessment of neural tube defects.5 The technology has now offered new opportunities to study embryonic and foetal behaviour which would make information available on specific movement patterns and quality of movement in the high-risk foetus for detection of foetal neuro-developmental impairment.6
Until recently, the only question raised by the prenatal diagnosis of a foetal malformation was whether to abort the foetus or to await delivery. Now, treatment of several foetal disorders has proved to be feasible in-utero. With the recent advancement in minimally invasive foetal surgery, frequency of open hysterotomy has decreased considerably. The latter is performed for conditions such as myelomeningocele, large congenital cystic adenomatiod malformation of lungs or a large sacrococcygeal teratoma.7 Prenatal repair of foetal myelomeningocele is now currently under investigation through a more systematic and appropriate randomized trial sponsored by National Institute of Child Health and Human Development.8 Introduction of minimally invasive technique for laser photocoagulation for the treatment of twin-twin transfusion syndrome,9 ablation of posterior urethral valves causing bladder outlet obstruction10 and tracheal occlusion using a balloon catheter for congenital diaphragmatic hernia11 are the most recent foetal intervention being carried out in-utero. Non-invasive prenatal diagnosis of foetal RhD status9 and foetal anaemia has become a reality. 13
On the other hand, assessment of foetal growth and subsequent monitoring of foetal oxygenation status can be easily performed at the level of the foetal and umbilical vessels and haemodynamic changes can be observed and used for improving the characteristics of management.14
With these advances, incorporation of the knowledge of genomics, proteomics, and stem cell research and gene therapy into foetal medicine is now required so as to make a wider range of therapeutic interventions possible. Further, the field needs to move into the next phase that is the evidence based for the practice of foetal medicine and surgery where it is important not to introduce exciting techniques without solid evidence which eventually would require establishment of and collaborations between multicentre networks of excellence globally; this would help prioritize and set the agenda for good quality research and clinical progress in this field.
References
1.Nicolaides K. Some thoughts on the true value of ultrasound. Ultrasound Obstet Gynecol 2007; 30: 671-4.
2.Choolani M, Ho SSY, Razvi K, Ponnusamy S, Baig S, Fisk NM, et al. FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Mol Human Reprod 2007; 13: 355-9.
3.Kumar S, O\'Brien A. Recent developments in foetal medicine. BMJ 2004; 328: 1002-6.
4.Rutherford MA. Magnetic resonance imaging of the foetal brain. Curr Opin Obstet Gynecol 2009; 21: 180-6.
5.Kurjak A, Miskovic B, Andonotopo W, Stanojevic M, Azumendi G, Vrcic H. How useful is 3D and 4D ultrasound in perinatal medicine? J Perinat Med 2007; 35: 10-27.
6.Kurjak A, Tikvica A, Stanojevic M, Miskovic B, Ahmed B, Azumendi G et al. The assessment of foetal neurobehavior by three-dimensional and four-dimensional ultrasound. J Matern foetal Neonatal Med 2008; 21: 675-84.
7.Hopkins LM, Feldstein VA. The use of ultrasound in foetal surgery. Clin Perinatol 2009; 36: 255-72.
8.Moise Jr KJ, Johnson A, Carpenter RJ, Baschat AA, Platt LD. Foetal intervention. Providing reasonable access to quality care. Obstet Gynecol 2009; 113: 408-10.
9.Senat MV, Deprest J, Boulvain M, Paupe A, Winer N, Ville Y. Endoscopic laser surgery versus serial amnioreduction for severe twin-to-twin transfusion syndrome. N Engl J Med 2004; 351: 136-44.
10.Welsh A, Agarwal S, Kumar S, Smith RP, Fisk NM. Foetal cystoscopy in the management of foetal obstructive uropathy: experience in a single European centre. Prenat Diagn 2003; 23: 1033-41.
11.Grethel EJ, Nobuhara KK. Foetal surgery for congenital diaphragmatic hernia. J Paediatr Child Health 2006; 42: 79-85.
12.C, Chiu RW, Lo YM. Detection of circulating foetal nucleic acids: a review of methods and applications. J Clin Pathol 2009; 62: 308-13.
13.Pretlove SJ, Fox CE, Khan KS, Kilby MD. Noninvasive methods of detecting foetal anaemia: a systematic review and meta-analysis. BJOG 2009; 116; 1558-67.
14.Mari G. Doppler ultrasonography in obstetrics: from the diagnosis of foetal anemia to the treatment of intrauterine growth-restricted foetuses. Am J Obstet Gynecol 2009; 200: 613 e1-9.
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